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14  --  DAYS 


A  NEW  TYPE  OF  HER 
BRACHYPHALANGY  I 


BY 


OTTO  L.  MOHR  AND  CHR.  WRIEDT 


24950 


^Vv^ 

-         VI  ; 


PUBLISHED  BY  THE  CAKNEGIE  INSTITUTION  OF  WASHINGTON 
WASHINGTON,  1919 


V  r 


APR  3  •  1929 


v 


CARNEGIE  INSTITUTION  OF  WASHINGTON 
PUBLICATION  No.  295 


PAPER  No.  31  OF  THE  STATION  FOR  EXPERIMENTAL  EVOLUTION  AT 
COLD  SPRING  HARBOR,  NEW  YORK 


/ 


PRESS  OF  GIBSON  BROTHERS,   INC. 
WASHINGTON,  D.  C. 


CONTENTS. 


PAGE 

I.  Introduction 5-  7 

II.  Review  of  literature 8-13 

III.  Method  of  examination 14-15 

IV.  General  description  of  the  brachyphalangy  studied 16-19 

V.  Family  record 20-43 

VI.  Hereditary  type  of  the  character  studied 44-61 

1.  General  discussion 44-49 

2.  The  ratio  between  affected  and  normal  individuals 49-50 

3.  The  B-type  and  the  B!-type 51-61 

VII.  Summary 61-62 

VIII.  List  of  literature .  .  63-64 


QH 


A  NEW  TYPE  OF  HEEEDITAEY  BKACHYPHALAGNY 

IN  MAN, 


I.  INTRODUCTION. 

No  other  field  in  biology  has  within  recent  years  yielded  such  far- 
reaching  and  important  results  as  the  field  of  genetic  work.  Thanks 
to  the  introduction  of  analytical  experimentation,  one  after  another  of 
the  central  problems  in  natural  science  has  been  solved  or  brought 
near  to  a  solution — problems  which  after  so  many  vain  attempts 
seemed  almost  beyond  the  reach  of  ordinary  scientific  analysis.  The 
progress  has  been  so  considerable  that  one  of  the  most  prominent 
workers  in  this  field,  T.  H.  Morgan,  in  1916  felt  justified  in  stating: 
"I  venture  the  opinion  that  the  problem  of  heredity  has  been  solved." 

It  scarcely  needs  to  be  pointed  out  that  the  broad  general  significance 
of  the  hereditary  phenomena  makes  it  urgently  necessary  to  determine 
whether  the  results  obtained  through  experimental  work  with  animals 
and  plants  may  be  applied  to  the  inheritance  of  human  characters. 
There  was  a  priori  no  reason  to  doubt  that  this  would  prove  to  be  the 
case,  and  several  human  characters,  physiological  as  well  as  patho- 
logical, have  been  shown  to  be  inherited  in  a  way  fully  accordant  with 
the  laws  established  through  experimental  genetic  work. 

Human  material,  however,  presents  several  serious  obstacles  for 
genetic  analysis.  Not  only  the  principal  handicap  involved  in  the 
lack  of  experiments,  but  also  other  special  features  make  man  a  very 
poor  subject  for  work  in  heredity.  The  number  of  individuals  within 
each  family  is  very  small;  intermarriage  is  comparatively  rare;  the 
interval  of  tune  between  the  generations  is  very  long;  and  the  charac- 
ters studied  are  rarely  amenable  to  accurate  measurements. 

Only  the  application  of  the  most  general  hereditary  laws,  those  of 
Mendelian  inheritance  and  of  sex-linked  inheritance,  has  accordingly 
so  far  been  possible  with  human  material.  Still,  the  experimental 
work  has  shown  that  even  though  these  laws  form  the  basis  of  all  our 
knowledge  of  heredity,  then*  manifestation  is  far  more  complicated 
than  it  would  seem  from  many  earlier  investigations,  where  the  case 
seemed  closed  when  it  was  possible  to  demonstrate  the  occurrence  of 
Mendelian  segregation. 

In  spite  of  the  difficulties  and  the  incompleteness  of  the  data  which 
are  due  to  the  nature  of  this  material,  it  is  nevertheless  desirable, 
whenever  human  characters  are  observed  which  are  accessible  for 
genetic  analysis,  to  carry  out  this  analysis  and  determine,  if  possible, 
whether  or  not  the  principles  established  through  experimental  work 
may  be  extended  so  as  to  include  human  material. 

The  hereditary  character  which  forms  the  subject  of  the  following 
investigation  is  a  symmetrical  shortness  of  a  single  (the  second) 


6  A   NEW   TYPE   OF   BRACHYPHALANGY   IN   MAN. 

phalanx  of  the  second  fingers  and  toes.  This  character  is  inherited 
within  a  Norwegian  family,  some  members  of  which  have  emigrated  to 
North  America.  Our  attention  was  called  to  the  material  by  Dr. 
Frimann  Koren,  of  Christiania,  who  observed  the  malformation  in 
some  members  of  the  family  15  years  ago. 

Dr.  Frimann  Koren,  who  intended  to  study  the  inheritance  of  the 
character,  showed  foresight  in  securing  not  only  ordinary  photographs 
but  also  radiographs  and  casts  of  the  hands  of  four  affected  members, 
viz,  a  father  and  three  of  his  sons.  Being  prevented  from  carrying 
out  the  investigation  himself ,  he  later  very  generously  permitted  us  to 
do  it,  and  at  the  same  time  he  kindly  transferred  to  us  the  material 
he  had  already  collected.  We  wish  to  express  to  him  our  most  sincere 
thanks  for  this  courtesy. 

Through  the  interested  and  intelligent  cooperation  of  two  members 
of  the  family  we  have  since  been  able  to  gather  detailed  information 
about  the  pedigree  for  six  generations,  an  investigation  that  has  been 
greatly  facilitated  by  the  fact  that  the  family  owns  an  old  "  family 
book"  with  elaborate  data  concerning  each  member  of  the  earliest 
three  generations  dealt  with  in  this  paper.  The  photographs  of  the 
malformation  cover  five  generations,  the  radiographs  four. 

The  material  here  studied  may  be  regarded  as  especially  favorable 
because  the  brachyphalangy  is  always  restricted  to  a  single  and  the 
same  phalanx,  and  a  numerical  expression  for  the  character  can  be 
obtained  by  measuring  from  the  radiographs  the  long  axis  of  the 
affected  phalanx.  These  data  have  made  possible  the  analysis  of  two 
distinctly  different  somatic  types  under  which  the  brachyphalangy 
manifests  itself.  A  suggestion  is  given  for  an  explanation  of  these  types 
on  a  genetic  basis.  Much  attention  is  paid  in  the  investigation  to  this 
special  point. 

The  family  studied  includes  a  case  of  intermarriage,  giving  rise  to  an 
individual  that  is  interpreted  as  homozygous  for  brachyphalangy. 
This  case  reveals  features  of  special  interest  from  a  medical  point  of 
view. 

As  to  the  name  used  in  this  paper  to  characterize  the  abnormality, 
the  following  might  be  mentioned:  Farabee,  when  he  described  the 
anomaly  often  spoken  of  later  as  "Farabee's  disease,"  used  the  name 
hypophalangia,  or  diminution  in  the  number  of  phalanges  (1905). 
Drinkwater,  in  his  papers  dealing  with  the  same  subject,  uses  the  term 
of  the  old  anatomists  brachydactyly,  which  is  still  generally  adopted  in 
pathological  anatomy  and  clinics.  According  to  Drinkwater,  the  fin- 
gers are  in  " brachydactyly  reduced  to  about  half  the  normal  length" 
(1915).  As  a  special  type  he  separates  " minor  brachydactyly." 
The  fingers  are  here  "intermediate  in  length  between  these  very  short 
ones  and  the  fingers  of  average  normal  individuals"  (1915). 


INTRODUCTION.  7 

Drinkwater's  terms  are  found  in  most  of  the  text  books,  but  it  will 
be  seen  from  the  citations  given  that  their  definition  is  rather  vague. 
Moreover,  the  radiographs  show  that  not  the  fingers  and  toes  as  a 
whole,  but  quite  definite  phalanges,  are  shortened.  It  is  therefore 
preferable  to  abandon  these  inadequate  terms  and  use  the  precise 
name  "brachyphalangy"  earlier  proposed  by  Pfitzner.  In  our  case  it 
is  quite  necessary  to  use  the  latter  term  because  the  malformation  can 
not  be  characterized  by  one  or  the  other  name  as  outlined  by  Drink- 
water's  definition,  both  degrees  of  shortening  occurring  within  the 
family  studied.  The  term  brachyphalangy  has  furthermore  the  advan- 
tage of  covering  all  the  numerous  types  of  analogous  malformations 
to  which  neither  of  the  two  terms  of  Drinkwater  can  justly  be  applied. 

During  the  course  of  the  investigation  the  authors  have  become 
indebted  to  several  persons  who  have  rendered  valuable  assistance  in 
providing  radiographs  and  photographs,  and  our  most  sincere  thanks 
are  tendered  to  Dr.  Heyerdahl,  of  Rigshospitalets  Rontgenavdeling, 
Christiania;  Dr.  P.  F.  Hoist,  of  Rigshospitalet,Christiania;  Dr.  Olav 
Hanssen,  Bergens  kommunale  sygehus;  Dr.  Paus,  Lindboe's  Klinik, 
Christiania;  Dr.  Wood,  of  the  Cancer  Laboratory,  Columbia  Univer- 
sity, New  York;  Mr.  A.  F.  Huettner,  New  York;  and  Dr.  Hektoen,  of 
the  John  McCormick  Institute,  Chicago.  We  are  similarly  indebted 
to  the  medical  students  Kreyberg,  Waaler,  and  Lie. 

One  of  the  authors,  Mohr,  who  carried  out  the  composition  of  this 
paper  while  working  in  the  laboratory  of  Dr.  T.  H.  Morgan,  at  Colum- 
bia University,  wishes  to  express  his  most  sincere  thanks  to  Dr.  Morgan 
for  his  help  and  encouragement  in  many  ways  as  well  as  for  the  hos- 
pitality and  facilities  enjoyed  during  the  work.  He  also  takes  the 
opportunity  of  acknowledging  his  large  indebtedness  to  Dr.  Bridges 
and  Dr.  Sturtevant  for  their  assistance.  Dr.  Sturtevant,  in  addition, 
took  the  burden  of  correcting  the  English  text,  a  kindness  for  which 
the  authors  feel  specially  and  sincerely  thankful. 

The  collection  of  radiographs  and  photographs  of  members  of  the 
family,  often  living  in  distant  communities,  was  made  possible  through 
a  grant  awarded  by  Nansenfondet,  Christiania.  An  opportunity  of 
including  some  of  the  American  members  of  the  family  in  the  present 
investigation  was  obtained  when  one  of  the  authors  obtained  a  fellow- 
ship of  the  American-Scandinavian  Foundation. 


8  A   NEW   TYPE    OF   BRACHYPHALANGY   IN   MAN. 

II.  REVIEW  OF  LITERATURE. 

After  the  rediscovery  of  Mendel's  work  it  was  not  long  until  evidence 
was  presented  to  the  effect  that  several  human  characters  are  inherited 
in  a  way  consistent  with  the  Mendelian  laws.  Among  the  clearest 
cases  are,  as  is  well  known,  several  malformations  affecting  the  hands 
and  feet,  such  as  adactyly,  monodactyly,  hypodactyly,  syndactyly, 
and  polydactyly;  hypophalangy,  brachyphalangy,  hyperphalangy,  and 
ankylosis  of  phalanges,  separately  or  in  different  combinations.  They 
all  behave  as  dominant  characters;  and  as  the  standard  case,  Far- 
abee's  fundamental  investigation  of  a  brachyphalangous  (by  him 
described  as  hypophalangous)  family  will  retain  its  merited  place  in 
the  text-books  dealing  with  this  subject. 

In  the  following  pages  consideration  will  be  given  only  to  brachy- 
phalangy and  combinations  in  which  brachyphalangy  is  the  main 
feature.  Brachyphalangy  is  defined  as  a  shortening  of  definite  pha- 
langes along  their  long  axis,  while  other  phalanges  are  normal.  Scat- 
tered around  in  the  literature,  a  great  many  cases  are  reported  which 
belong  to  this  group  of  malformations.  When  we  take  into  considera- 
tion the  mechanism  of  the  growth  in  length  of  the  phalanges  (the  undis- 
turbed growth  during  the  growth  years  of  the  epiphysial  cartilages 
which  continuously  yields  material  for  the  ossification  process)  it  is  at 
once  clear  that  many  different  influences  which  interfere  with  this 
mechanism  will  result  in  a  shortening  of  the  phalanx  in  question.  A 
trauma  (or  different  pathological  processes,  such  as  inflammations, 
etc.,  which  destroy  the  epiphysial  cartilages)  will  result  in  a  cessation 
in  the  growth  in  length  of  the  bone,  and  disturbances  in  the  normal 
embryological  development  may  lead  to  the  same  result. 

Several  cases  belonging  to  these  types  of  brachyphalangy  are  easily 
excluded  from  the  material  because  they  have  no  bearing  upon  our 
subject,  but  some  may  present  a  pathological-anatomical  picture 
which  is  likely  to  be  confused  with  the  ones  we  are  here  considering. 
This  is  especially  true  of  some  of  the  cases  of  brachyphalangy  called 
forth  by  embryological  disturbances.  One  group  deserves  special 
mention,  as  presenting  features  of  interest  for  our  purpose. 

This  type  is  rather  commonly  met  with  in  the  literature.  It  is 
characterized  by  a  total  absence  or  marked  shortening  of  all  the 
phalanges  of  the  second  row  on  one  hand,  combined  with  a  defect  of 
the  musculus  pectoralis  major  and  minor  and  eventually  of  some  other 
breast  muscles  on  the  same  side.  Fiirst  (1900)  gives  12  cases  from  the 
literature,  all  very  like  each  other  in  appearance.  The  interesting 
point  is  that  this  brachyphalangy,  which  is  not  inherited  and  is  recog- 
nized as  belonging  to  the  embryological  malformations,  invariably 
affects  the  second  row  of  phalanges. 

When  the  cases  previously  mentioned  are  excluded,  those  cases  of 
brachyphalangy  remain  in  which  we  have  more  or  less  information, 


REVIEW   OF   LITERATURE.  9 

proving  that  they  are  inherited,  together  with  cases  where  no  such 
information  is  given,  but  where  the  type  described  renders  it  almost 
certain  that  they  belong  to  the  same  class. 

With  regard  to  the  first  class,  cases  where  heredity  is  demonstrated, 
it  is  of  interest  to  notice  that  some  of  the  clearest  investigations 
demonstrating  the  Mendelian  inheritance  of  this  malformation  are 
"  pre-Mendelian  "  in  point  of  time. 

As  far  back  as  in  1857,  MacKinder  published  an  account  of  a  family 
in  which  a  case  of  brachyphalangy  combined  with  hypophalangy  was 
inherited  for  six  generations  in  a  way  quite  typical  for  a  regular  domi- 
nant Mendelian  character.  MacKinder  examined  individuals  repre- 
senting three  of  these  generations. 

The  most  characteristic  feature  in  MacKinder's  case  is  a  brachy- 
phalangous  condition  or  more  often  a  total  absence  of  the  second  row 
of  phalanges  of  the  second  to  fourth  fingers  on  both  hands,  combined 
with  brachyphalangy  or  absence  of  the  third  row  on  all  or  on  the  two 
ulnar  fingers  with  a  corresponding  lack  or  abortive  condition  of  the 
nails.  In  most  of  the  individuals  the  feet  are  affected  similarly  to  a 
greater  or  less  degree. 

The  most  important  point,  besides  the  Mendelian  inheritance  of 
the  malformation,  is  the  fact  that  it  manifests  itself  under  several 
distinctly  different  somatic  types. 

A  somewhat  similar  case  is  reported  by  Clarke  (1915).  The  thumbs 
are  normal ;  the  second  and  third  fingers  have  only  two  phalanges,  the 
second  row  being  absent;  the  fourth  and  fifth  fingers  have  only  one 
phalanx,  namely,  the  basal  one.  Judging  from  the  two  radiographs 
given,  it  seems  probable  that  there  really  is  present  a  very  much 
shortened  rudimentary  second  phalanx  in  the  fourth  and  fifth  fingers, 
ankylosed  to  the  basal  ones.  Nails  are  absent.  No  information  is 
given  concerning  the  feet.  The  malformation  is  found  in  10  individuals, 
covering  four  generations.  From  the  short  description  it  can  not  be 
seen  whether  or  not  different  somatic  types  are  found  in  the  affected 
individuals. 

A  third  case  of  hypophalangy  combined  with  brachyphalangy  is 
published  by  Cragg  and  Drinkwater  (1916).  The  abnormality  consists 
in  a  symmetrical  and  entire  absence  of  the  distal  phalanges  and  the 
most  extreme  brachyphalangy  of  the  second  row  of  phalanges  in  each 
digit  except  thumb  and  big  toe.  Nails  absent.  The  abnormality  is 
found  in  27  individuals,  inherited  as  a  typical  Mendelian  dominant  for 
five  generations.  However,  6  of  the  affected  members  of  the  family 
represent  another  somatic  type. 

In  these  individuals  there  is  in  addition  a  very  characteristic  bifur- 
cation of  the  thumb.  They  belong  to  three  different  families,  two  in 
each,  and  the  thumb  of  their  hypophalangous  parent  was  in  all  cases 
normal.  The  authors  state  that  "  there  is  little  doubt  that  there  is 


10  A   NEW  TYPE   OF   BRACHYPHALANGY   IN   MAN. 

some  hereditary  influence  at  work,  but  how  it  acts  it  is  impossible  to 
say."  The  supposition  of  a  dominant  modifying  factor,  introduced 
through  the  normal  parents  of  these  individuals,  would  account  for 
the  occurrence  of  this  special  type,  a  point  that  is  discussed  to  some 
extent  later  in  the  present  paper. 

Before  leaving  this  group  a  case  reported  by  Walker  (1901)  deserves 
mention.  He  followed  a  case  of  complete  bony  ankylosis  of  various 
joints  between  the  phalanges,  combined  with  brachyphalangy  and 
hypophalangy,  transferred  by  the  affected  individuals  through  five 
generations.  The  shortening  was  in  nearly  every  instance  most 
strikingly  observed  in  the  middle  phalanx.  The  hypophalangy, 
absence  of  one  or  more  bones  of  the  little  and  ring  finger,  occurred  in 
some  members  of  the  fifth  generation.  This  case  accordingly  repre- 
sents another  example  of  a  dominant  malformation  of  this  class  mani- 
festing itself  under  different  somatic  types. 

A  second  group  of  brachyphalangy,  less  extreme  than  the  one  just 
spoken  of,  is  the  one  to  which  Farabee's  case  belongs.  Here,  too,  we 
have  a  very  clear  "  pre-Mendelian "  case,  described  by  Kummel  in 
1895  (Fall  xx),  "Alle  Finger  haben  nur  zwei  Phalangen."  The  second 
row  is  described  as  being  entirely  absent.  "Nichts  auffallendes"  was 
noticed  with  regard  to  the  feet,  a  statement  to  which  not  very  much 
importance  can  be  attributed  since  radiographs  are  lacking.  The 
malformation  of  the  hands  is  "auf  das  genaueste  symmetrisch." 

Kummel  investigated  three  generations  and  his  pedigree — including 
more  than  50  individuals,  of  which  about  30  are  affected  (some  uncer- 
tain)— clearly  shows  the  features  typical  for  the  inheritance  of  a  simple 
Mendelian  dominant.  Kummel  was  fully  aware  of  the  fact  that  family 
members  who  do  not  show  the  malformation  have  only  normal  children. 

The  standard  case  of  this  type  is  that  of  Farabee  (1905),  who  fol- 
lowed the  malformation  through  five  generations  including  33  normal 
and  37  abnormal  individuals,  of  which  3  were  photographed  and 
radiographed.  Farabee  interpreted  his  case  as  one  of  "hypopha- 
langia,"  "reduction  in  the  number  of  phalanges."  "One  is  hardly 
justified  in  saying  that  one  or  the  other  segment  is  missing."  But 
Drinkwater  (1908  and  1914-15)  recognized,  by  means  of  his  more 
numerous  radiographs,  that  the  nature  of  the  malformation  is  in 
reality  a  very  pronounced  brachyphalangy  of  the  second  row  of  pha- 
langes combined  with  a  bony  ankylosis  of  this  rudimentary  phalanx 
with  the  terminal  one.  Farabee  states  that  "in  all  cases  hands  and 
feet  were  affected  in  exactly  the  same  way." 

That  the  malformation  can  hardly  have  been  as  invariable  as  Fara- 
bee's  description  seems  to  indicate  may  be  concluded  from  Drink- 
water's  paper  (1914-15).  This  author  succeeded  in  proving  that  his 
"second  brachydactylous  family"  was  an  English  line  of  the  American 
family  studied  by  Farabee,  one  member  having  emigrated  to  England, 
there  giving  rise  to  the  family  studied  by  Drinkwater. 


REVIEW   OF  LITERATURE.  11 

It  is  true,  from  Drinkwater's  investigation,  that  the  main  feature 
is  the  abortive  condition  of  the  ankylosed  second  row  of  phalanges 
in  the  second  to  fourth  fingers  and  a  brachyphalangy  of  the  first 
phalanx  of  the  thumb.  But  Drinkwater's  description  and  radiographs 
demonstrate  that  there  is  a  marked  variability  in  the  somatic  appear- 
ance of  the  character.  Not  only  is  the  typical  ankylosis  lacking  in 
several  hands  on  one  or  more  fingers  and  the  degree  of  brachyphalangy 
conspicuously  different  in  different  individuals,  but  in  addition  to  the 
malformation  of  the  finger  bones  a  typical  brachyphala,ngy  of  one 
or  more  metacarpal  and  metatarsal  bones  occurs  in  some  cases.  The 
distribution  of  these  special  types  within  the  family  can  not  be  traced 
from  Drinkwater's  paper.  The  author  states  that  the  malformation 
was  always  exactly  symmetrical,  even  in  those  cases  that  show  special 
peculiarities. 

Another  case  analogous  to  those  of  Kummel,  Farabee,  and  Drink- 
water  is  recorded  by  Gubler  (1850)  and  Gruber  (1865)  who,  however, 
give  no  information  concerning  the  heredity. 

More  numerous  than  the  extreme  cases  so  far  considered  are  those 
in  which  the  shortening  is  less  pronounced,  so  that  the  brachypha- 
langous  bone,  in  general,  more  or  less  clearly  retains  the  shape  of  a 
normal  bone  shortened  along  the  long  axis.  This  type  of  malformation 
may  affect  phalanges  alone,  metatarsal  or  metacarpal  bones  alone,  or 
at  the  same  tune  bones  of  both  these  categories.  Machol,  in  his  elab- 
orate review  of  the  literature  (1907),  finds  that  the  phalanges  are 
affected  in  only  21  per  cent  of  his  cases,  metacarpalia  and  metatarsalia 
in  58  per  cent,  and  combinations  of  both  in  21  per  cent.  But  it  must 
be  added  that  his  material  is  very  heterogeneous.  The  shortening  may 
affect  many  different  hand  bones,  but  here,  too,  a  certain  predilection 
seems  to  rule  with  regard  to  the  second  row  of  phalanges  in  the  second 
to  fourth  fingers. 

As  a  typical  case  may  be  cited  Joachimsthal's  Fall  3  (1900),  where 
a  mother  and  one  of  her  daughters  showed  brachyphalangy  of  these 
phalanges.  But  most  representative  are  Drinkwater's  observations 
(1912-13,  1913-14).  In  his  two  families  the  brachyphalangy  affected 
the  second  phalanx  of  the  second  to  fourth  fingers  and  toes.  In  the 
toes  there  was  also  an  ankylosis  between  the  shortened  phalanx  and 
the  terminal  one.  Drinkwater's  pedigree  covers  in  both  cases  five 
generations,  and  there  is  a  remarkable  constancy  of  the  somatic  appear- 
ance of  the  character. 

A  peculiar  type  of  brachyphalangy,  restricted  to  the  phalanges 
only,  is  the  one  recorded  by  Leboucq  (1896)  and  Joachimsthal  (1900), 
where  the  shortening  of  different  phalanges  (especially  of  the  second 
row)  is  combined  with  hyperphalangy,  the  index  or  the  middle  finger 
consisting  of  four  phalanges,  some  of  which  are  brachyphalangous. 
Joachimsthal  describes  this  type  in  three  members  of  the  same  family 
and  hi  the  following  generation  two  individuals  were  affected  in  the  same 


12  A   NEW   TYPE    OF   BRACHYPHALANGY   IN   MAN. 

way.  That  there  must  be  here  a  marked  variation  in  the  somatic 
appearance  of  the  character  seems  indicated  by  the  fact  that  one  of 
these  affected  members  of  the  last  generation  is  said  to  have  had  normal 
parents. 

A  very  interesting  case  where  brachyphalangy  in  some  individuals 
is  combined  with  hyperphalangy,  as  in  the  cases  just  mentioned,  is 
reported  by  Vidal  (1910),  and  extensively  referred  to  and  discussed 
by  Rabaud  (1912).  The  record  covers  five  generations,  including  84 
individuals.  Two  members  of  the  third  generation  show  the  com- 
bination of  brachyphalangy  with  hyperphalangy  and  ankylosis.  In 
two  individuals  from  the  next  generation  only  brachyphalangy  is 
present.  One  of  these  is  interesting  because  the  somatic  type  is  very 
much  like  the  one  here  studied,  the  second  phalanx  of  the  index  fingers 
only  being  affected.  In  the  other  the  second  phalanx  of  the  third  and 
fifth  fingers  are  also  brachyphalangous. 

Vidal  does  not  try  to  bring  his  results  in  relation  to  the  Mendelian 
laws,  and  Rabaud  uses  his  radiographs  and  records  to  prove  that  the 
Mendelian  heredity  does  not  hold  true  for  human  material,  since  the 
ratio  between  brachyphalangous  and  not-brachyphakngous  individuals 
in  the  offspring  of  affected  family  members  is  not  in  accord  with  the 
theoretical  expectation,  and  since  the  brachyphalangy  which  in  some 
cases  behaves  as  a  Mendelian  dominant  in  others  skips  a  generation. 
Many  family  members  are,  however,  described  by  Vidal  as  having 
what  he  calls  "doigt  crochu"  on  one  or  on  both  hands,  and  these  are 
considered  as  "not  brachyphalangous."  A  glance  at  the  pedigree 
shows  that  this  is  only  another  somatic  manifestation  of  the  character, 
and  in  fact  the  most  common  one.  The  "doigt  crochu"  is  shown  by 
19  individuals,  while  11  are  brachyphalangous.  When  both  types  are 
counted  together  and  considered  as  "affected,"  the  ratio  between 
normal  and  affected  individuals  in  the  offspring  of  heterozygous  indi- 
viduals is  very  close  to  1 : 1,  the  theoretical  expectation. 

The  case  represents  accordingly  a  very  striking  example  of  a  dom- 
inant malformation  which  manifests  itself  under  very  different  somatic 
types,  a  relation  which  can  be  explained  through  the  assumption  of 
the  presence  of  modifying  factors. 

Cases  in  which  the  shortening  affects  metacarpal  and  metatarsal 
bones  are  more  frequently  met  with  in  the  literature  than  the  cases  in 
which  principally  the  phalanges  show  the  brachyphalangy.  This 
type  is  reported  by  Goldmann  (1891),  Kummel  (1895),  Roughton 
(1897),  Fontana  and  Vacchelli  (1902),  Sternberg  (1902),  Wagner 
(1903-04),  Hochheim  (1903-04),  Kenyeres  (1905-06),  Riedl  (1907), 
and  others.  The  malformation  generally  affects  one  to  three  of  the 
metacarpse  and  metatarsse.  The  ulnar  side  seems  most  often  to  be 
affected.  The  symmetry  and  vertical  correspondence  is  not  so  marked 
as  in  the  cases  discussed  above,  and  since  information  concerning  the 


REVIEW   OF   LITERATURE.  13 

heredity  of  the  malformation  is  very  unsatisfactory  or  entirely  lacking 
these  cases  will  not  be  the  object  of  further  examination. 

Brachyphalangy  of  the  second  row  of  phalanges  combined  with  a 
shortening  of  the  metacarpal  bone  of  the  thumb  is  instanced  in  Col- 
son's  case  (1883),  referred  to  by  Leboucq  (1896).  The  malformation 
was  here  inherited  through  four  generations.  The  examination  is  not 
elaborate  enough  to  permit  conclusions  to  be  drawn  with  regard  to  the 
possible  occurrence  of  different  somatic  types. 

A  consideration  of  the  cases  of  brachyphalangy  reported  in  the 
literature  brings  out  the  following  facts : 

Several  distinctly  different  types  of  brachyphalangy  are  known.  In 
all  cases  where  sufficiently  elaborate  information  is  secured  concerning 
their  inheritance,  they  are  seen  to  be  inherited  as  dominant  Mendelian 
characters.  Some  of  the  cases  which  clearly  show  a  Mendelian  inheri- 
tance were  published  previous  to  the  rediscovery  of  Mendel's  work. 

The  malformations  are  known  only  in  heterozygous  individuals. 
Intermarriage  between  affected  individuals  is  not  so  far  recorded. 

In  the  inheritance  of  many  cases  of  brachyphalangy,  it  is  a  charac- 
teristic feature  that  the  inherited  malformation  shows  a  very  marked 
variation  in  its  somatic  appearance.  Within  a  family  where  a  gene 
for  brachyphalangy  is  inherited,  the  character  very  often  presents 
itself  under  quite  different  somatic  types.  This  tendency  suggests  the 
assumption  that  the  normal  individuals  married  into  the  family  are 
heterozygous  for  different  modifying  genes  which  may  change  the 
effect  of  the  gene  for  brachyphalagy  in  question.  (See  pp.  58-61.) 

In  hereditary  cases  of  brachyphalangy,  as  well  as  in  brachyphalangy 
due  to  embryological  disturbances,  the  second  row  of  phalanges  seems 
to  be  most  often  and  most  severely  affected.  In  the  embryo  it  is 
this  row  in  which  the  ossification  is  last  to  begin  (Fiirst,  1900;  Mall, 
1906) ;  and  in  young  individuals  the  cartilage  epiphysis  of  this  row 
of  phalanges  is  the  last  to  complete  ossification  (Holmgren,  1910). 


NOTE. — The  paper  by  H.  M.  Smith  (1904)  was  overlooked  until  after  the 
above  discussion  had  gone  to  press. 


14  A   NEW  TYPE    OF   BRACHYPHALANGY   IN   MAN. 

III.  METHOD  OF  EXAMINATION. 

Special  features  in  the  character  under  consideration  soon  convinced 
us  of  the  absolute  unreliability  and  insufficiency  of  second-hand  infor- 
mation. It  was  found  necessary  to  pay  fully  as  much  attention  to 
those  said  to  be  normal  as  to  those  reported  to  be  brachyphalangous. 
A  satisfactory  examination  had  to  comprise  photographs  and  radio- 
graphs in  both  cases.  In  some  cases  it  was  almost  impossible  to  per- 
suade members  of  the  family  to  permit  photographs  and  radiographs 
to  be  taken.  This  was  especially  true  with  regard  to  those  who  con- 
sidered themselves  to  be  normal;  but  we  are  indebted  to  other  family 
members  who  took  special  interest  in  the  work  and  tried  to  help  in 
every  way  possible. 

We  have  thus  been  able  to  trace  the  abnormality  without  any  break 
through  six  generations.  The  photographs  of  the  malformation  cover 
five  generations,  the  radiographs  four.  In  the  line  of  the  family  which 
forms  the  principal  subject  of  the  present  publication  we  have  secured 
photographs  of  the  hands  of  all  the  members  of  four  generations 
with  only  two  exceptions,  two  children  who  died  young.  In  the  large 
majority  of  cases  we  have  also  succeeded  in  obtaining  radiographs  of 
the  hands.  This  complete  collection  of  radiographs  has  furnished  us 
with  measurements  of  the  hand  phalanges  of  both  the  normal  and 
abnormal  members  of  the  family — exact  numerical  material  invaluable 
for  the  analysis  of  the  inheritance  of  the  character. 

In  order  to  get  this  collection  of  measurements  as  complete  as  pos- 
sible we  have  usually  been  forced  to  abstain  from  taking  radiographs 
and  photographs  of  the  feet.  Because  of  malformation  due  to  wearing 
shoes,  the  radiographs  of  the  feet  in  general  are  not  nearly  as  favorable 
as  those  of  the  hands  for  measuring  shortened  phalanges.  We  have 
therefore  endeavored  to  gather  only  sufficient  radiographs  of  affected 
feet  to  demonstrate  that  the  abnormality  affects  the  same  phalanx  of 
hands  and  feet  symmetrically;  that  it  shows  symmetry  and  vertical 
correspondence  as  well. 

The  lengths  of  the  phalanges  were  secured  from  the  radiographs  by 
measuring  in  millimeters  the  distance  between  the  center  of  the  proxi- 
mal and  the  center  of  the  distal  articular  surface,  this  distance  repre- 
senting the  axis  of  the  bone  in  question.  No  difficulties  are  involved 
in  determining  the  latter  of  these  two  points.  The  distal  articulation 
surface  is  convex  and  the  line  marking  this  limit  of  the  phalanx  is 
therefore  always  perfectly  clear  in  the  radiographs. 

Not  quite  so  easy  is  the  determination  of  the  other  measuring-point. 
The  proximal  articular  surfaces  of  the  middle  row  of  phalanges  present 
a  slight  middle  elevation  and  two  lateral  depressions  adapted  to  articu- 
late with  the  condyles  of  the  first  phalanges.  The  articular  surface  as 
a  whole  being  slightly  concave,  a  lighter  shadow  of  the  peripheral  parts 


METHOD   OF   EXAMINATION.  15 

of  the  phalangeal  extremity  often  overlaps  the  darker  shadow  that 
outlines  the  main  mass  of  the  bone.  A  very  dark,  condensed  shadow 
in  the  radiograph,  however,  indicates  the  limit  of  the  two  depressions 
and  the  central  elevation  just  mentioned,  and  the  point  representing 
the  apex  of  this  shadow  is  always  used  as  the  second  measuring-point, 
i.  6.,  not  including  the  light,  overlapping  shadow  where  this  is  present. 
In  cases  where  the  brachyphalangy  is  so  pronounced  that  the  form 
of  the  phalanx  is  entirely  altered,  the  longest  diameter  (in  the  longi- 
tudinal direction)  of  the  remaining  roundish  bone  is  used  as  the  value 
representing  the  length. 

In  some  of  the  most  elaborate  earlier  publications  in  regard  to 
hereditary  brachyphalangy  (Farabee  1905;  Drinkwater  1908,  1912-13, 
1913-14,  1914-15)  it  was  stated  that  the  affected  individuals  were 
also  below  the  average  in  stature.  Attention  was  paid  to  the  possi- 
bility of  a  similar  occurrence  in  our  case,  but  it  soon  became  clear  that 
this  condition  could  not  be  regarded  as  typical  for  the  affected  mem- 
bers of  the  family  here  described.  We  therefore  refrained  from  measur- 
ing the  height  of  the  individuals  in  order  to  make  the  examination 
simple. 

All  unrelated  individuals  married  into  the  family  will  be  regarded  as 
normal — that  is,  free  from  the  type  of  brachyphalangy  here  investi- 
gated. In  view  of  the  unique  character  of  the  described  type  and  the 
rare  occurrence  of  inherited  brachyphalangy  in  general,  this  point  needs 
no  further  explanation. 


16  A   NEW   TYPE   OF   BRACHYPHALANGY   IN   MAN. 

IV.  GENERAL   DESCRIPTION   OF  THE   BRACHYPHALANGY 

STUDIED. 

The  hands  of  the  brachyphalangous  individuals  which  first  came  to 
our  knowledge  are  of  a  very  characteristic  aspect  (figs.  4,  7,  10).  While 
the  middle  part  of  the  hand  and  all  the  other  fingers  are  normal,  the 
index  finger  appears  strikingly  shortened.  In  the  most  pronounced 
cases  this  finger  as  a  whole  is  only  a  little  longer  than  the  basal  seg- 
ment of  the  third  finger.  Inspection  from  the  dorsal  side  of  the  hand 
shows  at  once  that  the  shortening  is  limited  to  the  middle  segment  of 
the  index.  The  basal  segment  is  normal  and  so  is  the  distal  one,  and 
in  all  cases  the  nail  is  quite  normal. 

Seen  from  the  volar  surface,  it  is  noticed  that  the  index  fingers  in  the 
most  pronounced  cases  have  only  two  instead  of  the  normal  three 
grooves.  This  is,  for  instance,  true  of  the  hands  represented  in  fig. 
4  and  fig.  7.  In  other  cases  there  are  three  grooves,  but  the  distance 
between  the  two  distal  ones  appears  very  markedly  shortened  when 
compared  with  the  same  distance  in  normal  hands.  In  one  case  there 
are  three  grooves  on  one  index  and  only  two  on  the  other  (fig.  12). 

It  will  easily  be  understood  from  the  photographs  that  a  superficial 
examination  would  lead  to  the  conclusion  that  the  middle  segment  of 
the  finger  is  entirely  missing,  an  opinion  which  is  general  within  the 
family.  But  palpation  quickly  makes  it  clear  that  the  middle  phalanx 
is  present,  even  if  only  as  a  rudimentary  sesamoid  bone.  This  mal- 
formed phalanx  is  often  subluxated  to  the  ulnar  side  of  the  joint, 
where  it  can  be  felt,  a  relation  which  explains  a  characteristic  feature 
in  the  aspect  of  many  of  the  affected  index  fingers ;  for,  as  will  be  seen 
from  several  of  the  photographs,  the  brachyphalangous  index  is  not 
straight,  but  slightly  bent,  the  basal  phalanx  forming  a  slight  angle 
with  the  terminal  one,  the  latter  pointing  in  a  radial  direction. 

It  is  typical  that  this  bent  condition  is  most  often  met  with  on  the 
right  hand,  while  the  left  brachyphalangous  index  is  generally  straight. 
This  relation  is  explained  by  the  information  frequently  obtained  that 
the  mothers  of  the  affected  children  always  tell  them  to  pull  and 
straighten  the  index  fingers.  The  children,  being  right-handed,  are 
more  energetic  in  their  treatment  of  the  left  index,  and  the  result  just 
described  is  obtained.  The  bent  condition  of  the  brachyphalangous 
finger  is  in  several  cases  very  marked,  and  the  brachyphalangy  is  often 
referred  to  by  the  members  of  the  family  as  ''crooked  fingers." 

The  brachyphalangy  seems  not  to  affect  the  use  of  the  hand  in  any 
particular  way.  Family  members  of  the  most  different  occupations 
all  state  that  they  can  easily  do  any  kind  of  work  with  their  hands. 
The  flexion  of  the  indices  is,  however,  limited  when  compared  with 
normal  hands,  and  in  some  cases  it  is  easy  to  produce  a  subluxation  of 
the  terminal  phalanx. 


DESCRIPTION     OF   BRACHYPHALANGY    STUDIED.  17 

An  inspection  of  the  photographs  represented  will  demonstrate  that 
the  brachyphalangy  is  in  general  strikingly  symmetrical  if  we  dis- 
regard the  bent  condition  just  mentioned.  The  difference  in  length 
between  the  brachyphalangous  indices  of  the  same  individual  is  never 
very  pronounced. 

With  regard  to  the  type  of  the  brachyphalangous  hand  in  general, 
it  has  been  found  that  some  of  the  individuals  have  a  rather  clumsy 
hand  with  fairly  short  fingers  (figs.  4,  7),  but  this  condition  can  not  be 
regarded  as  characteristic  for  the  affected  individuals  only.  Their 
normal  brothers  and  sisters  may  represent  a  similar  type  (fig.  1),  and 
on  the  other  side  we  have  cases  where  the  brachyphalangy  is  present 
in  hands  of  a  very  slender  type  with  long,  thin  fingers  (fig.  18). 

These  general  statements  concerning  the  type  of  the  brachypha- 
langy described  are  confirmed  and  made  clearer  by  the  study  of  the 
radiographs.  It  will  be  seen  from  these  that  the  brachyphalangy  is 
restricted  to  the  second  phalanx  of  the  index,  its  form  and  size  having 
undergone  a  complete  change.  In  many  cases  the  shortening  of  this 
bone  is  so  pronounced  as  to  leave  merely  a  scarcely  visible  rudimentary 
roundish  bone,  generally  situated  at  the  ulnar  side  of  the  articulation 
established  through  the  coming  together  of  the  distal  articular  surface 
of  the  basal  phalanx  with  the  proximal  of  the  terminal  one  (figs.  4,  7, 
10).  Every  trace  of  the  normal  form  of  the  second  index  phalanx  has 
disappeared;  but  we  have  no  case  in  our  material  where  the  second 
phalanx  is  entirely  absent. 

In  some  cases  the  rudimentary  second  phalanx  has  one  or  two  (figs. 
39, 40)  small  articular  surfaces  for  articulation  with  the  other  phalanges. 
In  the  last  case  the  radial  part  of  the  articulation  is  established  through 
the  articular  surfaces  of  the  first  and  third  phalanx,  while  at  the  ulnar 
part  they  have  adapted  their  form  for  articulation  with  the  two  oblique 
articular  surfaces  of  the  rudimentary  second  phalanx.  The  articulation 
shows  in  these  cases  a  Y  form  in  the  radiographs  (fig.  40).  Not  always, 
however,  is  the  change  in  form  so  thoroughgoing.  Figs.  42,  45,  and  51 
show  how  the  brachyphalangous  bone  may  retain  its  character  of  a 
phalanx  with  two  typical  articular  surfaces.  The  bone  is  thick  and 
lacks  the  narrower  middle  part,  characteristic  for  a  normal  phalanx. 

A  radiograph  from  a  12-year-old  child  (fig.  15)  shows  a  total  absence 
of  epiphysial  cartilage  and  reveals  the  fact  that  the  brachyphalangous 
condition  is  brought  about  by  a  premature  ossification  of  the  cartilage, 
resulting  in  a  stopping  of  the  growth  in  length. 

An  examination  of  the  feet  of  the  brachyphalangous  individuals  con- 
firms then*  statements  that  the  feet  are  affected  in  exactly  the  same 
way  as  the  hands.  We  have  made  sufficiently  numerous  personal 
examinations  to  conclude  that  the  brachyphalangy  shows  a  striking 
vertical  correspondence.  Only  the  second  phalanx  of  the  second  toe 
is  brachyphalangous.  The  other  bones  of  the  feet  are  normal.  Fig. 


18  A   NEW  TYPE   OF   BRACHYPHALANGY  IN   MAN. 

50  is  from  a  radiograph  of  the  foot  of  a  brachyphalangous  member  of 
the  family.  It  demonstrates  the  typical  condition  and  needs  no  further 
description. 

The  investigation  of  the  so-called  normal  individuals  within  the 
affected  family  soon  demonstrated  that  the  malformation  also  mani- 
fests itself  under  another  and  markedly  different  somatic  type.  Several 
examples  of  this  type  are  given  in  figs.  13, 19-25,  and  31-36.  Examined 
from  the  dorsal  surface,  the  hands  in  some  cases  would  easily  be 
regarded  as  normal  (figs.  13,  23,  31,  and  35);  in  other  cases  a  slight 
shortening  of  the  indices  is  clearly  recognizable.  An  inspection 
from  the  volar  surface  shows  that  here  also  the  shortening  is 
restricted  to  the  second  phalanx  of  the  indices.  This  is  indicated  by 
a  shortening  of  the  distance  between  the  middle  and  the  distal  grooves 
of  the  skin. 

Sometimes  this  shortening  is  very  marked  and  can  not  be  overlooked 
(figs.  20,  21,  and  34) ;  but  in  other  cases  it  is  so  slight  that  even  a  careful 
comparison  with  normal  hands  leaves  it  doubtful  whether  the  abnor- 
mality is  present  or  not  (figs.  13,  24).  Index  fingers  of  this  type  often 
seem  to  be  a  little  narrower  around  the  second  segment,  which  makes 
the  third  segment  look  a  little  club-shaped  and  thickened  (figs.  9,  34). 
They  are  always  straight,  a  bent  condition  (as  described  above)  never 
being  observed. 

It  will  be  easily  understood  that  the  shortening  of  the  distance 
between  the  second  and  third  grooves  as  a  measure  is  very  inexact. 
It  is  therefore  in  many  cases  very  unsatisfactory  as  a  diagnostic 
feature,  and  a  control  by  radiographs  is  absolutely  essential. 

The  radiographs  in  most  cases  clearly  show  that  the  second  index 
phalanx  is  shortened  and  sometimes  a  little  narrower,  but  we  have 
cases  where  it  is  very  hard  to  tell  whether  a  shortening  is  actually 
present  or  not.  The  length  of  the  finger  bones  is  very  variable  in  nor- 
mal hands,  and  only  a  very  careful  analysis  of  the  measures  obtained 
from  the  radiographs  permits  certain  conclusions  to  be  drawn.  This 
point  is  discussed  on  pages  51-55.  It  may  here  be  stated  only  that  this 
analysis  in  the  great  majority  of  the  more  doubtful  cases  clearly  shows 
that  a  brachyphalangy  of  the  second  index  phalanx  is  present,  but  we 
have  a  few  cases  where  the  measurements  fall  within  the  limits  of 
extreme  variation  in  normal  hands.  Here  a  conclusive  decision  can 
be  reached  only  through  the  genetical  test  obtained  from  the  examina- 
tion of  the  offspring. 

With  regard  to  the  form  of  the  shortened  phalanx,  it  will  be  noticed 
in  the  radiographs  that  the  typical  phalanx  form  is  retained.  The 
radiographs  from  children's  hands  show  that  the  epiphysial  cartilages 
are  present  in  the  affected  phalanges. 

We  have  in  our  material  no  cases  representing  an  intermediate  con- 
dition between  the  two  types  just  described.  We  are  evidently  dealing 


DESCRIPTION    OF   BRACHYPHALANGY   STUDIED.  19 

with  two  distinct  somatical  types  of  brachyphalangy.  They  will  in 
the  following  be  characterized  respectively  as  the  simply  brachypha- 
langous  or  "B-type"  and  the  very  brachyphalangous  or  "B!-type." 
It  needs  no  special  explanation  to  show  that  this  presence  of  the 
B-type,  which  in  some  cases  seems  to  overlap  the  extreme  variations 
in  normal,  not  brachyphalangous  hands,  makes  it  necessary  to  examine 
and  especially  to  procure  radiographs  from  all  the  members  of  the 
family — not  only  the  evidently  brachyphalangous  members,  but  also 
those  who  from  a  superficial  examination  seem  to  be  normal.  If  this 
had  not  been  done  the  whole  pedigree  would  have  been  full  of  mistakes 
and  contradictions. 


20  A   NEW   TYPE    OF   BRACHYPHALANGY   IN   MAN. 

V.  FAMILY  RECORD. 

In  this  family  record  the  following  method  of  numeration  will  be 
used: 

Each  individual  is  given  a  number  corresponding  to  his  order  of 
birth  in  his  fraternity.  His  offspring  have  the  same  number  plus  their 
own  ordinal  number.  Since  in  some  families  there  are  more  than  10 
children,  a  period  is  always  placed  just  before  the  fraternity  number  of 
each  invididual.  Thus  the  first  brachyphalangous  member  of  the 
present  family  is  1.  Her  offspring  are  1.1,  1.2,  1.3,  etc.,  to  1.17.  The 
offspring  of  1.1  are  11.1,  11.2,  etc.;  of  1.5: 15.1,  15.2,  etc.  The  number 
of  digits  in  each  case  represents  the  number  of  generations  from 
individual  1.  Relationship  is  also  obvious  at  a  glance — 1153.2  and 
1154.1,  for  example,  are  evidently  cousins. 

One  of  the  main  advantages  of  this  system  is  that  it  enables  new 
individuals  to  be  inserted  in  the  pedigree  without  renumbering  any  of 
those  already  pedigreed.  As  a  rule,  only  initials  and  dates  of  birth 
and  death  will  be  used  to  mark  the  individuals.  Men  and  women  will 
be  designated  in  the  ordinary  manner  by  d1  and  9 .  In  the  descrip- 
tion and  measurements  the  Roman  numerals  I-V  will  characterize  the 
fingers,  I  meaning  the  thumb,  V  the  little  finger.  The  Arabic  figs. 
1-3  will  be  used  in  referring  to  the  phalanges,  1  being  the  basal,  3  the 
terminal  phalanx. 

I  GENERATION. 

1.  Marthe  Kristine  Haarbye  (Dec.  19,  1764-Feb.  1,  1826)  is  the 
first  brachyphalangous  individual  concerning  whom  the  family  book 
contains  detailed  information.  She  was  born  in  Fredrikshald,  Norway, 
as  the  oldest  daughter  of  merchant  Andreas  Haarbye,  from  Aarhus 
in  Jylland,  Denmark.  Her  mother,  Kristine  Skouw  (1729-1814),  was 
born  in  Fredrikshald,  Norway. 

Marthe  Kristine  Haarbye  married,  in  1782,  district  judge  L.  0, 
born  in  Flekkefjord,  Norway,  between  1750  and  1760,  died  May  18, 
1812.  About  her  the  family  book  gives  the  following  very  interesting 
information,  here  quoted  literally: 

"She  left  10  living  children  and  22  grandchildren,  18  living,  about  whom 
the  following  pages  are  written,  and  be  it  noticed  that  every  second  child 
has,  as  she  had  herself,  crooked  or  shortened  index  fingers  with  only  one  joint. 
Besides  the  10  children  she  had  also  7  other  children,  who  were  stillborn." 

This  portion  of  the  family  book  was  written  by  her  son,  bailiff 
L.  0.,  1.7  cT.  He  was  a  very  intelligent  and  precise  man  who  took 
special  interest  in  genealogy  and  wrote  the  family  book  for  three 
generations  with  admirable  care.  He  had  the  shortened  index  fingers 
himself  in  a  very  pronounced  degree,  as  will  appear  later.  The  infor- 
mation he  gives  about  his  9  brothers  and  sisters  is  in  every  respect 


FAMILY   RECORD. 


21 


22  A   NEW  TYPE    OF   BRACHYPHALANGY   IN   MAN. 

unusually  elaborate  and  accurate  and  the  quoted  statement  concerning 
the  hands  of  his  mother  and  her  10  children  can  safely  be  regarded  as 
reliable. 

A  control  of  the  correctness  of  his  statement  that  "every  second 
child"  had  the  malformation  is  furnished  by  our  investigation,  which 
has  shown  that  the  following  children:  l.l9,1.39,1.7cT,  and  1.9cf 
were  brachyphalangous.  We  have  succeeded  in  determining  this 
either  through  direct  information  concerning  the  individuals  them- 
selves or  through  the  occurrence  of  affected  individuals  in  their  off  spring. 

Regarding  No.  1.5  d1,  who  married  twice  and  left  5  children,  we  have 
not  yet  had  the  opportunity  of  carrying  out  the  examination  of  his 
descendants;  but  since  all  the  results  we  have  so  far  obtained  are 
strongly  in  support  of  the  correctness  of  the  quoted  statement,  it  is 
exceedingly  probable  that  it  holds  for  this  brother  of  the  author  as  well. 

The  statement  that  the  malformed  index  fingers  had  "only  one 
joint"  shows  that  No.  1  9  M.  K.  H.  must  have  had  the  B!-type  of 
the  brachyphalangous  condition.  Whether  the  brachyphalangy  was 
transferred  to  this  individual  from  her  parents  or  whether  we  here  have 
the  first  occurrence  of  the  character  has  not  been  determined  No  re- 
marks are  found  in  the  family  book  concerning  the  hands  of  her  parents. 
She  had  three  brothers  and  one  sister,  all  of  whom  married,  and  their 
descendants  are  living  in  different  parts  of  Norway.  But  we  have 
not  had  time  to  find  out  whether  or  not  members  of  these  families  show 
brachyphalangy. 

The  husband  of  1,  L.  p.,  who  was  from  quite  another  part  of  Nor- 
way, was  unrelated  to  her  and  may  be  regarded  as  normal.  Their 
children  represent  the  members  of  Generation  II,  now  to  be  described. 

II  GENERATION. 

From  this  generation  we  have  been  able  to  provide  our  first  photo- 
graph demonstrating  the  characteristic  brachyphalangy  of  the  indices 
(fig.  3).  The  photograph  is  owned  by  a  member  of  the  IV  generation 
and  he  knows  with  certainty  that  it  represents  one  of  his  grand-uncles, 
a  son  of  the  parents  just  spoken  of,  though  he  can  no  longer  remember 
which  of  them.  Moreover,  the  clothing  worn  by  the  photographed 
man  proves  beyond  doubt  that  he  belonged  to  this  and  not  to  the  fol- 
lowing generation. 

The  photograph  gives  a  good  idea  of  the  abnormality  (fig.  3).  Both 
indices  are  strikingly  shortened  and  look  as  if  they  had  only  one  joint. 
The  terminal  phalanges  and  their  nails  seem  to  be  normal,  but  on  both 
hands  they  are  bent  in  a  radial  direction  in  relation  to  the  axis  of  the 
basal  phalanx.  We  have  in  later  generations  good  examples  of  a 
similar  type.  Radiographs  show  in  these  cases  that  the  second  phalanx 
is  present,  but  only  as  a  bone  of  the  size  of  a  pea,  while  phalanges  1  and 
3  are  normal.  The  bent  condition  of  the  finger  is  caused  by  the  dis- 


FAMILY   RECORD.  23 

location  in  ulnar  direction  of  this  rudimentary  bone  (cf.  figs.  39,  40, 
and  41).  This  individual  belongs  clearly  to  the  B!-type  of  our  brachy- 
phalangy. 

The  II  generation  comprises,  as  already  stated,  10  individuals  born 
alive  (1.1-1.10)  and  7  who  were  still-born  (1.11-1.17). 

1.1  9  G.  H.  0.  (May  17,  1784-Nov.  21,  1849)  brought  the  mal- 
formation into  the  line  of  the  family  which  forms  the  main  subject 
of  this  publication.    No  photographs  of  her  hands  have  been  obtain- 
able, but  information  from  different  sources  agrees  in  the  statement 
that  she  had  very  short  index  fingers.    This  is  also  in  accord  with  the 
quoted  statement  from  the  family  book,  which  in  addition  indicates 
that  she  showed  the  B!-type  of  the  brachyphalangy.     Genetically  she 
must  have  been  heterozygous  for  the  factor  in  question. 

She  married  in  1811  district  judge  and  "kancelliraad"  P.  F.  M.  H. 
(May  3,  1780-Aug.  19,  1838)  from  Kongsberg,  Norway.  His  hands 
were  normal.  They  had  5  children  (11.1-11.5)  who  will  be  spoken  of 
in  detail  later. 

1.2  9  T.  K.  S.  0.  (May  25,  1788-Mar.  19,  1867).    She  married  in 
1806  J.  H.  (Aug.  20,  1780-Aug  19,  1838)  and  had  numerous  descend- 
ants.    No  information  of  brachyphalangy  has  been  found  concerning 
either  herself  or  her  descendants. 

1.3  9  M.  K.  0.  (Aug.  3,  1791-May  15,  1867).    According  to  the 
statement  of  the  family  book,  her  index  fingers  must  have  been  bra- 
chyphalangous  of  the  B!-type.     She  married,  in    1812,   proprietor 
Aa.  Aa.  (1790-Oct.  23,  1854),  from  the  Trondhjem  district  in  Norway. 
They  had  9  children,  most  of  whom  married.    One  of  her  sons  married 
twice,  both  tunes  with  unrelated  women.    By  his  second  marriage  he 
had  a  son,  born  in  1859,  concerning  whom  the  author  of  the  family 
book  adds  the  following  note:  "with  crooked  fingers." 

The  term  "crooked  fingers"  is  very  often  used  by  the  family  mem- 
bers to  mark  the  brachyphalangous  condition  of  the  indices.  Clearly 
the  author,  who  was  brachyphalangous  himself  to  a  very  pronounced 
degree,  intends  by  the  note  to  state  that  the  individual  had  brachy- 
phalangous index  fingers.  This  information  of  the  occurrence  of  a 
brachyphalangous  individual  among  the  descendants  of  1.3  9  M.  K.  0. 
strongly  supports  the  statement  formerly  quoted  and  causes  us  to 
regard  it  as  certain  that  she  was  brachyphalangous. 

1.4  9  A.  K.  0.  (Dec.  24, 1794-Sept.  28, 1853).     She  married,  in  1818, 
merchant  J.  H.  (1791-Oct.  23, 1860)  from  Christiania,  Norway,  and  had 
3  children.    They  all  married  and  had  several  children.  No  data  about 
brachyphalangy  have  been  obtained  concerning  either  herself  or  her 
descendants. 

1.5  cf  H.  T.  0.  (born  Dec.  13,  1795).     To  judge  from  the  above 
statement  in  the  family  book,  his  indices  must  have  been  brachy- 
phalangous and  of  the  B  !-type.    Like  the  other  affected  individuals  of 


24  A   NEW   TYPE   OF   BRACHYPHALANGY   IN   MAN. 

this  generation,  he  must  have  been  heterozygous  for  the  factor  in  ques- 
tion. He  married  twice:  (1)  C.  E.  who  died  May  15,  1823,  after  hav- 
ing had  3  children.  (2)  in  1828  M.  C.,  born  in  1802,  by  whom  he  had 
2  children.  One  of  his  married  daughters  had  2  children.  We  have, 
as  stated  above,  not  yet  been  able  to  carry  out  the  examination  of  this 
line  of  the  family  and  do  not  know  if  brachyphalangy  has  occurred 
among  the  rather  few  descendants. 

1.6  9  A.  C.  0.  (June  18,  1800-Jan.  4,  1882).    She  married  in  1822 
bank  treasurer  P.  £).,  from  0sterdalen,  Norway,  who  died  Oct.  21, 1841. 
They  had  no  children.    There  are  no  data  indicating  that  her  indices 
were  brachyphalangous. 

1.7  c?1  L.  0.  (Aug.  6,  1801-Mar.  6,  1870),  bailiff,    Nesodden,  near 
Christiania,  Norway.    This  man  is  the  author  of  the  family  book  so 
far  as  the  three  earlier  generations  are  concerned.    He  was  the  most 
prominent  member  of  the  family  and  had  an  extensive  acquaintance. 
Three  different  persons  still  living,  who  knew  him  personally,  agree  in 
the  statement  that  his  index  fingers  were  "very  short,"  "with  one 
joint,"  that  is  of  the  B  !-type.    Genetically  he  must  have  been  hetero- 
zygous for  the  factor  for  brachyphalangy.     Though  we  have  seen 
several  photographs  of  him,  none  of  them  shows  his  indices.    Where 
he  is  taken  full  length,  he  always  conceals  his  hands  in  a  very  obvious 
manner.    He  married  in  1828  E.  K.  0  (Nov.  28,  1807-Mar.  19,  1858), 
from  Bserum  near  Christiania,  Norway.    She  and  her  husband  were 
unrelated.     Her  hands  were  normal.     They  had  only  one  child,  a 
daughter  F.  G.  H.  0.,  17.1  9  (p.  28). 

1.8  9  S.  C.  0.  (Nov.  5,  1802-Mar.  17,  1857).     She  married,  in  1825, 
proprietor  J.  S.  F.  (May  31, 1788-Apr.  18, 1863),  Voss  pr.  Bergen,  Nor- 
way.   They  had  5  children  with  many  descendants.    No  information 
yet  obtained  indicates  whether  she  or  any  of  her  descendants  had 
brachyphalangous  hands. 

1.9  c?  F.  J.  0.  (May  10, 1804-Sept.  28, 1872)  was  a  tanner.    Accord- 
ing to  the  statement  in  the  family  book  he  must  have  been  brachy- 
phalangous and  of  the  B  !-type,  being  heterozygous  for  the  factor. 
One  of  his  granddaughters  (194.1  9  C.  F.  A.)  told  of  her  own  accord 
that  his  index  fingers  had  "only  one  joint."     He  married,  in  1834, 
C.  R.,  from  Asker,  Norway,  and  had  9  children,  most  of  them  married 
and  with  numerous  descendants.    Among  his  children,  as  well  as  among 
the  members  of  the  two  following  generations,  we  have  been  able  to 
find  brachyphalangous  individuals.     From  members  of  the  fourth, 
fifth,  and  sixth  generation  we  have  taken  photographs  and  radiographs 
to  be  described  below. 

l.lOcf  S.  A.  L.  0.  (born  Oct.  14, 1807),  bank  treasurer.  He  married 
P.  M.  I.  (Nov.  6,  1794- July  17,  1873)  and  had  one  daughter  who 
married  and  had  two  children.  No  information  has  been  obtained 
indicating  that  he  or  his  descendants  had  brachyphalangy. 


FAMILY   RECORD.  25 

1.11-1.17.  Seven  still-born  children  of  unknown  sex.  No  infor- 
mation concerning  their  hands  has  been  obtainable. 

This  finishes  the  description  of  the  II  generation.  Our  investigation 
shows  that  5  of  the  10  members  of  the  family  born  at  full  term  had 
brachyphalangy  of  the  B  !-type.  It  is  impossible  to  tell  whether  any 
of  the  members  whom  the  author  of  the  family  book  regarded  as  normal 
may  not  have  been  brachyphalangous  of  the  B-type.  The  instances 
in  which  this  condition  has  escaped  the  observation  of  very  intelligent 
observers  are  numerous  within  our  experience.  It  is  true  that  we  have 
not  been  able  to  point  out  the  occurrence  of  brachyphalangy  among 
the  descendants  of  those  members  of  the  family  who  were  supposed  to 
be  normal,  but  not  very  much  importance  can  be  attributed  to  this 
fact,  because  we  have  so  far  concentrated  our  attention  on  the  lines 
descending  from  1.1,  1.7,  and  1.9. 

The  inquiries  and  examinations  we  have  been  able  to  make  within 
the  other  lines  are  not  elaborate  enough  to  permit  certain  conclusions 
drawn  from  a  negative  result.  Where  the  result  has  been  positive — 
that  is,  where  we  have  been  able  to  show  the  occurrence  of  brachypha- 
langy among  the  descendants  of  members  of  generation  II,  the  con- 
ditions are  different.  The  inheritance  of  the  malformation  as  worked 
out  in  this  paper  allows  us,  in  such  cases,  to  conclude  with  certainty 
that  the  member  of  generation  II,  from  whom  the  line  in  question 
descends,  was  brachyphalangous,  at  least  when  no  intermarriages 
within  the  lines  have  taken  place. 

In  the  following  only  the  descendants  of  No.  1.1  9 ,  1.7  cf,  and  1.9  cf 
will  be  described.  They  will  be  spoken  of  as  belonging  respectively  to 
"Lines"  1,  7,  and  9. 

LINE  1,  III  GENERATION. 

The  members  of  the  III  generation  belonging  to  line  1  comprise  the 
5  children  of  the  brachyphalangous  1.1  9  G.  H.  0.  and  her  husband 
P.  F.  M.  H. 

11. Id1  C.  E.  H.  (Mar.  11,  1814-1884),  a  farmer,  married  in  1859 
M.  C.,  but  had  no  children.  None  of  the  members  of  the  family  or 
other  persons  now  living,  who  knew  him,  noticed  any  abnormality  of 
his  indices. 

11.2  cf  F.  G.  H.    (May  13,   1819-Aug.  29,   1856),  unmarried.     A 
member  of  the  family  who  knew  him  "never  noticed  or  heard  of  short- 
ness of  his  fingers." 

11.3  cf  F.  L.  C.  G.  H.  (Mar.  31,  1821-Mar.  20,  1895),  unmarried. 
A  letter  from  one  of  his  nieces  states  that  "uncle  L.  had  short  index 
fingers."    This  statement  is  confirmed  by  one  of  his  nephews,  who 
adds  that  "both  his  index  fingers  had  a  crook" — that  is,  were  bent. 
The  bent  condition  indicates  that  his  brachyphalangy  was  of  the 
B  !-type.    Genetically  he  must  have  been  heterozygous  for  the  factor 
in  question. 


26  A   NEW  TYPE   OF   BEACHYPHALANGY   IN   MAN. 

11.4  9  L.  A.  H.  H.  (Sept.  15,  1822-Feb.  11,  1907).    AU  information 
concerning  her,  including  that  from  her  daughter,  is  in  accord  concerning 
the  fact  that  her  fingers  were  normal.    The  correctness  of  this  state- 
ment is  confirmed  by  a  photograph.    She  married,  in  1846,  district 
physician  A.  H.  H.   (Aug.  17,  1815-May  29,   1880),  who  was  quite 
unrelated  to  her.    They  had  12  children  (114.1-114.12). 

11.5  cf  C.  A.  B.  H.  (Jan.  11,  1825-July  21,  1910),  bailiff.    He  is  the 
first  member  of  the  family  whose  hands  were  photographed  and  radio- 
graphed.   Dr.  Frimann  Koren,  who  took  these  photographs,  at  the 
same  time  obtained  casts  of  his  hands.    His  hands  show  the  B  !-type 
of  brachyphalangy  in  a  very  characteristic  form.     Genetically  he  was 
heterozygous  for  the  factor  for  brachyphalangy.     The  photographs 
(fig.  4)  give  a  good  idea  of  the  shape  of  his  hands  and  make  it  easy  to 
understand  how  the  affected  members  who  show  the  B  !-type  generally 
believe  that  the  second  phalanx  of  their  index  is  missing.    It  will  be 
seen  that  the  entire  brachyphalangous  index  is  only  a  little  longer  than 
the  basal  phalanx  of  the  third  finger.    The  left  index  is  straight,  but  on 
the  right  the  basal  phalanx  forms  a  slight  angle  with  the  terminal  one, 
the  latter  being  somewhat  bent  in  a  radial  direction.    Except  for  the 
indices  the  hands  are  normal,  as  shown  in  the  photograph. 

The  radiographs  (fig.  39)  give  a  clear  conception  of  the  nature  of  the 
B  !-type  brachyphalangy.  They  show  that  the  shortening  is  com- 
pletely restricted  to  the  second  phalanx  of  the  indices.  This  bone  is 
not  absent,  but  remains  as  a  rudimentary  sesamoid  bone.  This  small 
bone  is  in  both  hands  dislocated  in  the  ulnar  direction,  thus  leaving 
the  basal  and  the  terminal  phalanx  to  constitute  the  main  articulation 
surfaces.  At  the  ulnar  side  of  the  j  oint  the  rudimentary  second  phalanx 
sticks  between  the  other  two  and  the  articular  surface  of  the  terminal 
phalanx  is  oblique,  articulating  with  the  basal  only  on  the  radial 
side.  The  striking  symmetry  of  the  malformation  needs  only  to  be 
mentioned. 

It  will  be  noticed  that  some  of  the  other  phalanges  of  the  hands 
show  indications  of  pathological  alteration.  The  individual  was, 
however,  nearly  80  years  old  when  the  radiographs  were  taken  and 
our  large  collection  of  radiographs  from  brachyphalangous  hands 
permits  us  to  conclude  that  these  alterations  are  of  another  nature  and 
bear  no  relation  to  the  brachyphalangy.  The  lengths  of  II  2  and  IV  2 
measured  from  the  radiographs  are  respectively  6  and  27  mm.  on  both 
hands. 

This  individual  married  twice  and  his  first  marriage  is  of  especial 
interest,  being  the  only  intermarriage  between  members  of  affected 
lines.  He  married,  namely,  first  his  cousin  17.1  9  F.  G.  0.  (Mar.  15, 
1829-Mar.  22,  1872),  the  only  child  of  his  uncle  1.7  d"  L.  0.,  who  had 
the  B!-type  of  the  brachyphalangy  (p.  24).  We  have  made  numerous 
efforts  to  determine  whether  she  was  brachyphalangous,  but  it  has  not 


FAMILY   RECORD.  27 

been  possible  to  reach  a  certain  conclusion.  A  photograph  of  her  hands 
(fig.  5)  shows  at  least  that  she  did  not  have  the  B  !-type  of  brachy- 
phalangy,  but  from  our  discussion  of  the  B-type  later  it  will  be  seen 
that  she  may  very  well  have  had  this  type  of  the  malformation.  It 
would  have  been  necessary  to  have  a  photograph  of  the  inside  of  her 
hands  to  settle  the  question.  One  of  her  husband's  children  by  his 
second  marriage  has  heard  that  her  index  fingers  were  slightly  short- 
ened, but  our  experience  with  such  information  prevents  us  from 
regarding  it  as  of  much  value. 

The  question  is  a  very  important  one  for  our  investigation,  as  will 
be  seen  later  when  we  describe  the  two  children,  115.1  9  and  115.2  9 , 
who  were  born  from  her  marriage  with  her  brachyphalangous  cousin. 
If  she  was  heterozygous  for  brachyphalangy,  the  only  possibility  in 
our  material  for  children  homozygous  for  brachyphalangy  is  present. 
The  investigation  of  her  children  furnishes  us,  as  we  shall  see,  with 
very  interesting  points  for  a  further  discussion  of  this  question. 

11.5  cf  C.  A.  B.  H.  married  the  second  time,  in  1874,  S.  M.  C.  W., 
who  was  unrelated  to  him  and  had  normal  hands.  They  had  6  chil- 
dren 115.3-115.8  (p.  29-32). 

This  finishes  the  study  of  this  family,  representing  the  III  genera- 
tion of  line  1.  The  result  indicates  that  2  out  of  the  5  members  of  the 
family  had  the  B  !-type  of  the  anomaly.  The  3  others  are  supposed 
to  have  been  normal,  but  the  possibility  that  some  of  them  may  have 
had  the  B-type  can  not  with  certainty  be  excluded.  In  treating  this 
line  we  have  also  finished  the  record  of  line  7,  the  only  individual 
belonging  to  this  line,  namely  17.1  9  F.  G.  £).,  the  daughter  of  1.7  cf  L.  £)., 
having  married  into  line  1  and  being  therefore  referred  to  here. 

LINE  1,  IV  GENERATION. 

The  fourth  generation  of  line  1  includes  three  families,  the  children 
of  11.4  9  L.  A.  H.  H.,  who  had  normal  hands,  and  those  of  the 
brachyphalangous  11.5  cf  C.  A.  B.  H.  by  his  two  marriages. 

FIRST  FAMILY  OF  IV  GENERATION. 

11.4  9  L.  A.  H.  H.  had,  by  her  marriage  with  A.  H.  H.,  12  children, 
114.1-114.12. 

114.1  9  A.  C.  H.  (b.  Aug.  1,  1847).    Unmarried. 

114.2  9  A.  H.  (b.  Apr.  21,  1849).    Unmarried. 

114.3  9  S.  H.  (b.  Feb.  1,  1851).    Unmarried. 

114.4  9  H.  H.  (b.  Apr.  1,  1852).    Unmarried. 

114.5  9  L.  H.  H.  (b.  Apr.  13,  1853).    Unmarried. 

114.6  cf  H.  H.  (Aug.  14,  1855-May  6,  1910)  married  M.  E.  B.  (Dec. 
28, 1855-Apr.  21,  1912)  and  had  2  children,  1146.1  and  1146.2  (p. 32). 

114.7  9  T.  H.  (b.  Apr.  2,  1857).      Married  in  1880  J.  M.  G.  B.  (b. 
June  28,  1854),  minister.    They  had  8  children,  1147.1-1147.8  (p.  32). 


28  A   NEW  TYPE   OF   BRACHYPHALANGY   IN   MAN. 

114.8 d*  A.  H.  (Nov.  1, 1858-Apr.  21,  1903).  Married  in  1900  A.  A.  L 
(b.  Mar.  28,  1876)  and  had  2  children,  1148.1  and  1148.2  (p.  32). 

114.9  9  E.  H.  (May  27,  1860-Oct.  10,  1860). 

114.109  Aa.  H.  (b.  Dec.  2,  1861).  Married  in  1883  merchant  R.  L. 
(b.  Feb.  7,  1856).  No  children. 

114.11  9  V.  H.  (Jan.  30,  1863-Dec.  18,  1875). 

114.12  9  G.  H.  (Jan.  7,  1865-Dec.  12,  1866). 

All  information  we  have  obtained  concerning  the  members  of  this 
family  indicates  that  their  hands  were  normal,  thus  confirming  the 
conclusion  that  their  mother  was  free  from  the  factor  for  brachypha- 
langy. 

SECOND  FAMILY  OF  IV  GENERATION. 

The  B  !-type  brachyphalangous  ll.Sc?  C.  A.  B.H.  had  by  his  first 
marriage  with  his  cousin  17.1  9  F.  G.  0  (p.  24),  daughter  of  the  B  !-type 
brachyphalangous  1.7  cf  L.  0.,  2  children,  115.1  and  115.2. 

115.19  E.A.  H.  (May  16,  1853-Nov.  3,  1913).  She  married  pro- 
prietor 0.  G.,  d.  1905,  and  had  3  children,  1151.1-1151.3  (p.  33).  One 
of  her  half-brothers,  when  asked,  gave  us  the  information  that  her 
fingers  were  "not  absolutely  normal";  but  her  own  son  answered  in  a 
letter  that  her  hands  were  normal,  a  statement  which  also  was  con- 
firmed by  her  daughter.  A  clear  case  of  brachyphalangy  is  known  to 
us  among  her  descendants.  At  last  we  succeeded  in  getting  a  photo- 
graph showing  her  right  hand.  Though  not  very  good,  this  photograph 
settles  the  question  (fig.  6).  It  shows  clearly  that  she  was  brachy- 
phalangous to  a  characteristic  degree.  The  ends  of  the  other  fingers 
are  in  the  photograph  hidden,  but  enough  of  them  is  seen  to  show  that 
she  had  the  B-type  of  the  malformation.  The  study  of  her  descendants 
proves  that  she  was  heterozygous  for  the  factor  in  question. 

115.2  9  C.  F.  H.  (May  9,  1855-Apr.  4,  1856).  This  second  daugh- 
ter, who  died  one  year  old,  demands  special  attention.  All  informa- 
tion is  to  the  effect  that  she  was  a  cripple,  unable  to  develop;  but  it  has 
so  far  been  impossible  to  investigate  the  exact  nature  of  her  malforma- 
tion. This  is  explained  through  the  fact  that  the  family  has  inten- 
tionally not  talked  about  her,  regarding  the  birth  of  a  cripple  within 
the  family  as  a  point  not  to  be  mentioned.  This  practice  has  been 
followed  so  carefully  that  even  the  daughter  of  her  own  sister,  when 
asked,  did  not  know  of  her  existence.  The  small  amount  of  informa- 
tion resulting  from  our  very  elaborate  inquiries  is  limited  to  the  fol- 
lowing rather  vague  statements: 

Her  half-brother,  a  very  intelligent  man,  to  whom  we  are  highly 
indebted  for  much  valuable  information,  states  that  "her  whole  osseous 
system  was  in  disorder."  Her  half-sister  knows  with  certainty  that 
"her  hands  and  feet,  or  at  any  rate  her  fingers  and  toes,  were  entirely 
absent." 


FAMILY   RECORD.  29 

This  occurrence  of  a  cripple,  the  only  one  in  the  whole  family  for 
six  generations,  as  a  result  of  an  intermarriage  between  one  brachy- 
phalangous  individual  and  his  cousin  whose  father  had  brachypha- 
langy,  is  very  remarkable.  It  suggests  the  possibility  that  this  cousin 
was  brachyphalangous,  genetically  heterozygous  for  the  factor,  and 
that  this  child  may  have  been  homozygous  for  it,  receiving  one  gene 
from  her  father  and  one  from  her  mother.  This  explanation,  if  correct, 
involves  the  assumption  that  the  character  we  have  studied,  the 
brachyphalangous  index,  represents  only  the  heterozygous  condition, 
and  that  the  factor,  when  homozygous,  affects  the  individual  in  a 
much  more  serious  way.  This  conclusion  is  by  no  means  certain,  but 
is  at  least  strongly  suggested  by  the  facts  of  the  case.  This  point  will 
be  more  especially  discussed  later. 

Summing  up:  Brachyphalangous  ll.Sd"  C.  A.  B.  H.,  who  showed 
the  B  !-type  of  the  malformation,  by  his  first  marriage  with  his  cousin 
17.1  9  F.  G.  0.,  had  2  children,  one  brachyphalangous  and  one  cripple 
unable  to  develop. 

THIRD  FAMILY  OP  IV  GENERATION. 

The  brachyphalangous  11. 5  c?  C.  A.  B.  H.  married  in  1874  for  a 
second  time.  This  wife  (S.  M.  C.  W.,  Aug.  1,  1843-May  3,  1899)  was 
normal  and  quite  unrelated  to  him.  They  had  6  children,  115.3-115.8. 

115.3  cf  P.  F.  G.  H.  (b.  Nov.  16,  1875),  mail  carrier.  A  photograph 
of  his  hands  is  given  in  fig.  1.  The  indices  are  quite  normal.  We 
mention  especially  that  photographs  taken  from  the  inside  show  that 
the  distance  between  the  two  distal  grooves  in  the  skin  marking  the 
joints  is  very  little  shorter  in  the  indices  than  in  the  fourth  fingers. 
In  brachyphalangous  hands  of  the  B-type  this  distance  is  generally 
markedly  shorter  in  the  indices.  The  radiographs  prove  that  the 
relative  lengths  of  the  finger  bones  are  normal,  the  lengths  of  II  2  and 
IV  2  being  respectively  25  and  29  mm.  on  both  hands. 

115.3d"  P.  F.  G.  H.  married  J.  G.  (b.  Oct.  10,  1880)  who  was  not 
related  to  him  and  who  has  normal  hands.  They  have  3  children, 
1153.1-1153.3  (p.  34). 

115.4cf  M.  H.  (b.  Apr.  4,  1870),  merchant.  A  photograph  of  his 
hands  (fig.  7)  shows  a  very  characteristic  B  !-type  brachyphalangy. 
As  in  the  case  of  his  father's  hands,  the  right  brachyphalangous  index 
is  bent,  while  the  left  is  straighter. 

Radiographs  are  given  in  fig.  40.  In  the  right  hand  the  short  second 
phalanx  of  the  index  remains  as  a  bone  the  size  of  a  pea  and  is  dis- 
located in  the  ulnar  direction,  as  described  when  speaking  of  the 
father's  hands.  In  the  left  index  the  second  phalanx  is  seen  to  be 
reduced  so  much  in  size  that  its  existence  might  almost  be  overlooked. 
Its  position  is  (as  on  the  right  hand)  in  the  ulnar  part  of  the  joint. 

The  other  finger  bones  are  normal  except  the  second  phalanx  of  the 
fifth  finger  of  the  right  hand,  which  is  thicker  and  4  mm.  shorter  than 


30  A   NEW  TYPE    OF   BRACHYPHALANGY   IN  MAN. 

the  same  bone  on  the  left  hand.  This  part  of  the  radiograph  is  not  very 
good  and  it  is  hard  to  tell  how  much  importance  should  be  attributed 
to  this  irregularity.  It  is  the  only  case  in  our  material  where  a  bone 
in  addition  to  the  second  phalanx  of  the  index  or  the  second  toe  is 
shortened.  The  fact  that  the  corresponding  bone  of  the  left  hand 
shows  the  normal  length,  in  connection  with  the  slight  degree  of  the 
shortening,  makes  it  doubtful  whether  this  shortening  ought  to  be 
regarded  as  a  part  of  the  brachyphalangy  or  merely  as  a  variation  due 
to  other  causes. 

The  symmetry  of  the  brachyphalangy  of  the  indices  is  very  pro- 
nounced. The  lengths  of  II  2  and  IV  2  are  respectively  5  and  29  mm. 
on  the  right  hand,  5  and  28  mm.  on  the  left. 

115.4d"  M.  H.,  who  is  genetically  heterozygous  for  the  factor  for 
brachyphalangy,  married  the  normal  H.  G.  (b.  May  16, 1887),  a  sister  of 
J.G.,thewife  of  his  brother  115.3.  They  had  onedaughter  1154.1  (p.34). 

115.5  tf  H.  M.  H.  (b.  Feb.  11,  1879),  bailiff.     All  of  the  second-hand 
information  concerning  this  man  agrees  in  indicating  that  he  had 
normal  hands.    His  brothers  had  not  observed  any  malformation  of 
his  indices.    We  knew,  however,  that  he  had  two  small  daughters — 
twins — who  both  were  brachyphalangous,  and  when  we  wrote  to  him 
he  answered  that  "the  second  phalanx  of  both  the  index  fingers  seems 
to  be  somewhat  shortened."    We  have  not  so  far  had  the  opportunity 
of  personally  examining  or  procuring  radiographs  of  his  hands  because 
he  lives  in  a  distant  community,  but  the  photographs  (figs.  8  and  9) 
give  a  good  idea  of  the  malformation. 

We  are  dealing  with  a  clear  case  of  the  B-type  of  brachyphalangy. 
Seen  from  the  back  of  the  hands  the  shortening  is  not  very  conspicuous 
and  might  easily  be  overlooked.  The  indices  are  only  a  little  shorter 
than  in  a  normal  hand  and  the  second  phalanx  is  a  little  narrower 
than  it  is  in  a  normal  finger.  This  makes  the  terminal  phalanx  look 
as  it  it  were  somewhat  club-shaped  and  thickened.  The  shortness  of 
the  second  phalanx  is  far  more  strikingly  seen  in  fig.  9,  showing  the 
inside  of  the  hands.  The  distance  between  the  two  distal  grooves  is 
considerably  shorter  on  the  indices  than  on  the  fourth  fingers.  The 
shortening  seems  to  be  strongly  symmetrical. 

This  individual  is  genetically  heterozygous  for  the  factor  for  brachy- 
phalangy. He  married  the  normal  D.  K.  (b.  Nov.  39,  1879)  and  has  3 
children,  the  two  younger  being  identical  twins,  1155.1-1155.3  (pp.34-35). 

115.6  cf  C.  S.  H.  (b.  Nov.  19,  1880),  farmer.     Photographs  of  his 
hands  are  given  in  fig.  10.    They  need  no  special  description,  the  fingers 
being  very  like  those  of  his  father,  11.5  cf,  and  of  the  brother,  115.4  cf , 
already  described.    On  the  left  index  the  shortened  second  phalanx 
(dislocated  as  usual  to  the  ulnar  part  of  the  joint  formed  by  the  first 
and  third)  is  seen  to  form  a  little  projection  on  the  left  side  of  the 
finger. 


FAMILY   RECORD.  31 

The  radiograph  (fig.  41)  of  the  left  hand  is  not  clear  enough  to  show 
the  limits  of  the  shortened  bone,  but  the  presence  of  the  luxated  rudi- 
mentary phalanx  in  the  ulnar  part  of  the  joint  is  clearly  demonstrated. 
On  the  right  index  there  is  no  luxation  of  the  shortened  second  phalanx. 
It  remains  as  a  distinct  phalanx  with  two  articulation  surfaces.  It  is 
longer  on  the  ulnar  than  on  the  radial  side,  thus  giving  the  finger  a 
typical  bend.  The  other  finger  bones  are  normal. 

The  lengths  of  II  2  and  IV  2  are  respectively  6  and  27  mm.  on  the 
right  hand.  On  the  left  hand  the  longest  diameter  of  the  luxated 
II  2  is  8  (?)  mm.,  but  it  looks  as  if  this  diameter  represents  the  breadth 
and  not  the  length  of  the  affected  phalanx.  The  length  of  IV  2  is  26 
mm.  on  the  left  hand. 

115.6cf  C.  S.  H.,  who  is  genetically  heterozygous  and  shows  the 
B  !-type  brachyphalangy,  married  N.  G.  (b.  Nov.  28,  1884)  and  has 
a  son  1156.1  (p.  35). 

115.79  L.  H.  (b.  Apr.  19,  1882).  She  emigrated  to  the  United 
States,  where  she  married  J.  H.  (b.  Feb.  15,  1873),  who  is  unrelated  to 
her.  One  of  us  has  had  the  opportunity  of  examining  her  hands  and 
procuring  the  photographs  and  radiographs,  figs.  2  and  37.  As  seen 
from  these,  her  hands  are  in  every  respect  perfectly  normal.  The 
lengths  of  II  2  and  IV  2  are  respectively  24  and  29  mm.  on  both  hands. 
By  her  marriage  she  has  1  son;  1157.1  cf  (p.  36). 

115.8cf  I.  H.  (b.  June  15,  1885).  He  also  emigrated  to  the  United 
States  and  lives  now  in  New  York  City.  Photographs  of  his  hands 
are  given  in  figs.  11  and  12.  They  show  a  characteristic  example  of 
the  B  !-type  of  brachyphalangy.  The  right  brachyphalangous  index 
is  bent,  the  left  one  is  straight.  The  photographs  from  the  inside  of 
his  hands  show  two  grooves  on  the  left  index  finger  and  only  one  on  the 
right.  The  radiographs  (fig.  42)  explain  why  this  happens.  The 
malformation  is  seen  to  be  strongly  symmetrical  in  that  it  affects  only 
the  same  bone  on  both  hands,  but  the  shortening  is  more  pronounced 
in  the  left  index.  The  shortened  bone  is  somewhat  longer  on  the  ulnar 
than  on  the  radial  side.  Both  shortened  phalanges  have  two  articula- 
tion surfaces  and  articulate  with  the  basal  and  the  terminal  phalanges. 
The  length  of  II  2  and  IV  2  are  respectively  6  and  29  mm.  on  the  right, 
10  and  29  mm.  on  the  left  hand.  In  this  case  we  also  have  been  able 
to  obtain  a  radiograph  of  the  feet.  It  shows  a  marked  symmetrical 
shortening  of  the  second  phalanges  of  the  second  toes;  all  other  bones 
in  the  feet  are  normal. 

This  man,  who  is  genetically  heterozygous  for  the  factor  for  brachy- 
phalangy, married  the  normal  0.  M.  G.  K.  (b.  Dec.  17,  1886).  They 
have  1  son,  1158.1  cf  (p.  36). 

Looking  back  on  these  children  of  the  B!-type  brachyphalangous 
ll.Scf  by  his  second  marriage  with  a  normal  wife,  we  find  that  2  of 
the  6  children  were  unaffected,  1  showed  the  B-type  brachyphalangy, 
and  3  the  brachyphalangy  of  the  B  !-type  like  their  father. 


32  A   NEW   TYPE   OF   BRACHYPHALANGY   IN   MAN. 

In  this  family  we  have  secured  exact  information  concerning  the 
feet  which  proves  that  the  brachyphalangy  shows  regular  vertical 
correspondence,  the  two  feet  being  symmetrically  affected  in  exactly 
the  same  manner  as  the  hands. 

LINE  1,  V  GENERATION. 

The  fifth  generation  of  line  1  includes  10  families,  3  of  which  descend 
from  the  normal  11.4  9  L.  A.  H.  H.  (p.  26),  7  from  the  brachypha- 
langous  11.5  cf  C.  A.  B.  H.  (p.  26). 

FIRST  FAMILY  OF  V  GENERATION. 

114.6d"  H.  H.  had,  by  his  marriage  with  M.  E.  B.,  2  children,  1146.1 
and  1146.2. 

1146.1  9    G.  H.  (b.  Sept.  22,  1883).     She  married  bank  treasurer 
C.  C.  (b.  May  8,  1852)  and  had  2  children,  11461.1-11461.2  (p.  36). 

1146.2  9   A.  H.  (b.  Aug.  29,  1892).    She  married  in  1917  secretary 
T.  M.    No  children. 

SECOND  FAMILY  OF  V  GENERATION. 

114.7  9   T.  H.  had,  by  her  marriage  with  J.  M.  G.  B.,  8  children, 
1147.1-1147.8. 

1147.1  cf  A.  H.  H.  B.  (b.  Mar.  20,  1882).    Unmarried. 
1147.2 cf  E.  B.  (b.  Sept.  24,  1883).    Unmarried. 

1147.3  cf  R.  B.    (b.  Jan.  9,  1885).    Married  in  1916  B.  L.  R.    No 
children. 

1147.4  9  K.  L.  B.  (b.  Dec.  30,  1886).     She  married  in  1910  con- 
sultant J.  J.  and  has  2  children,  11474.1-11474.2  (p.  36). 

1147.5  9  V.  B.  (b.  Oct.  28,  1889).    Unmarried. 

1147.6  9  D.  B.  (b.  July  19,  1891).    Unmarried. 

1147.7  cf  G.  B.  (b.  Jan.  30, 1894).    Photographs  and  radiographs  of 
his  hands  are  obtained  as  a  test.    They  show  that  his  hands  are  normal 
in  every  respect.    Lengths  of  II  2  and  IV  2  are  respectively  23  and  27 
mm.  on  both  hands. 

1147.8  9  T.  B.  (b.  Dec.  10,  1895). 

THIRD  FAMILY  OF  V  GENERATION. 

114.8  cf  A.  H.  had,  by  his  marriage  with  A.  A.  L.,  2  children,  1148.1 
and  1148.2. 

1148.1  9  B.  H.  (b.  Mar.  12,  1901). 

1148.2  9  A.  H.  (b.  Oct.  10,  1902). 

The  result  of  our  investigation  and  of  all  information  concerning 
these  three  families  of  the  V  generation,  line  1,  is  to  the  effect  that  the 
members  without  exception  had  normal  hands.  To  make  a  control 
test  and  to  get  material  for  our  comparative  measurements  we  secured 
the  radiographs  of  one  individual,  1 147.7 cf.  This  accords  with  the 
expectation  which  was  based  on  the  fact  that  11.4  9  L.  A.  H.  H.  was 
genotypically  free  from  the  factor  for  brachyphalangy  (cf.  p.  26). 


FAMILY   RECORD.  33 

FOURTH  FAMILY  OF  V  GENERATION. 

The  B-type  brachyphalangous  115.1  9  E.  G.  H.  had,  by  her  mar- 
riage with  0.  G.,  3  children,  1151.1-1151.3. 

1151. Id1  E.  G.  (Aug.  18,  1873-Apr.  4,  1902),  technician.  All  the 
information  is  to  the  effect  that  he  had  normal  hands,  a  statement 
that  is  confirmed  by  a  photograph  of  his  right  hand. 

1151.2  9  S.  G.  (b.  July  16,  1876).  All  inquiries  about  her  hands 
resulted  in  the  statement  that  they  were  normal.  This  will  easily  be 
understood  when  looking  at  the  photograph  (fig.  13),  showing  the 
hands  seen  from  the  back.  Aside  from  the  missing  of  the  right  fourth 
finger,  lost  in  an  automobile  accident,  the  hands  on  superficial  examina- 
tion seem  to  be  perfectly  normal.  From  the  volar  side  it  is  seen, 
however  (fig.  14),  that  the  distance  between  the  two  distal  grooves  on 
the  indices,  compared  with  the  corresponding  distance  on  the  fourth 
fingers,  is  a  little  shorter  than  is  the  case  in  a  normal  hand.  The 
radiographs  (fig.  43)  permit  an  exact  measurement  of  the  phalanges. 
II  2  on  the  right  hand  is  21  mm.  On  the  left  the  lengths  of  II 2  and 
IV  2  are  20  and  26  mm.  respectively. 

It  will  be  seen  later,  when  we  analyze  the  correlation  between  the 
lengths  of  these  two  phalanges  in  normal  hands,  that  Pfitzner  (1892, 
1893),  among  301  normal  hands,  has  in  one  case  found  the  same 
measures,  20  and  26  mm.  Judged  from  this  character,  our  individual 
might  therefore  be  regarded  as  normal.  The  aspect  of  the  inside  of  the 
indices,  however,  indicates  that  we  here  are  dealing  with  a  very  extreme 
case  of  the  B-type  brachyphalangy.  This  view  is  supported  by  the 
fact  that  the  individual  is  genetically  heterozygous  for  the  factor  for 
brachyphalangy.  She  has  a  son,  to  be  mentioned  later,  who  shows  the 
B  !-type  of  the  brachyphalangous  condition,  11512.1  cf  (pp.  36-37). 

The  case  illustrates  the  necessity  of  making  extremely  careful  exami- 
nations in  dealing  with  human  material.  Even  where  the  inherited 
factor,  when  heterozygous,  calls  forth  so  striking  alterations  as  in  this 
case  of  brachyphalangy,  we  can  still  find  cases  where  the  heterozygous 
individuals,  even  after  a  careful  examination,  might  be  regarded  as 
somatically  normal. 

1151.2  9    S.  G  married  the  unrelated  factory  owner  0.  S.  R.   (b. 
July  16,  1865).    She  has  1  son,  11512.1  d*  (pp.  36-37). 

1151. 3  cf  S.  G.  (b.  Apr.  29,  1882),  civil  engineer.    Photographs  and 
radiographs  of  his  hands  show  that  he  is  free  from  brachyphalangy. 
Lengths  of  II  2  and  IV  2  are  25  and  30  mm.  on  the  right,  25  and  29 
mm.  on  the  left  hand.    He  married  the  unrelated  J.  A.  (b.  July  29, 
1888)  and  has  1  daughter,  11513.1  9  (p.  37). 

Investigations  as  to  this  family  show  that  the  brachyphalangous 
115.1  9  E.  G.  H.  had  two  normal  and  1  B-type  brachyphalangous 
children.  This  proves  that  115.1  9  herself  was  heterozygous  for  the 
factor  for  brachyphalangy  (cf.  p.  28). 


34  A   NEW   TYPE    OF   BRACHYPHALANGY   IN   MAN. 

FIFTH  FAMILY  OF  V  GENERATION. 

The  normal  115.3  cf  P.  F.  G.  H.  had,  by  his  marriage  with  J.  G., 
3  children,  1153.1-1153.3. 

1153.1  rf1  P.  F.  H.   (b.  Mar.  21,   1905).     Photographs  and  radio- 
graphs of  his  hands  prove  that  he  is  free  from  brachyphalangy.  Lengths 
of  II  2  and  IV  2  on  both  hands  are  21  and  25  mm.,  respectively. 

1153.2  9    S.  E.  H.   (b.  Mar.   12,   1907).     Photographs  and  radio- 
graphs of  her  hands  show  that  she  is  normal.    Lengths  of  II  2  and 
IV  2  are  on  both  hands  18  and  20  mm.,  respectively. 

1153.3  9    E.  R.  H.  (b.  Jan.  1,  1910).    Photographs  and  radiographs 
of  her  hands  prove  that  she  is  free  from  brachyphalangy.    Lengths  of 
II  2  and  IV  2  on  both  hands  18  and  21  mm.,  respectively. 

All  the  children  of  this  family  have  perfectly  normal  hands,  which 
was  to  be  expected  from  the  examination  of  their  father. 

SIXTH  FAMILY  OF  V  GENERATION. 

The  B  !-type  brachyphalangous  115.4  cf  M.  H.  has,  by  his  marriage 
with  the  normal  H.  G.,  1  daughter,  1154.1  9 . 

1154.1  9  I.  S.  H.  (b.  May  9,  1905).  A  photograph  of  her  hands 
(fig.  15)  shows  a  typical  case  of  symmetrical  brachyphalangy  of  the 
indices.  The  radiographs  (fig.  44)  demonstrate  that  all  the  other 
finger  bones  are  normal  and  give  a  good  idea  of  how  the  brachypha- 
langous condition  of  the  indices  is  brought  about.  While  all  the  other 
bones  of  the  hand  still  have  their  epiphysial  cartilages,  those  of  the 
second  phalanges  of  the  second  fingers  are  already  ossified,  though  the 
girl  was  only  12  years  old  when  the  plates  were  taken.  This  fact 
indicates  that  this  case  is  to  be  regarded  as  belonging  to  the  B  !-type 
of  brachyphalangy.  While  all  the  other  phalanges  keep  on  growing, 
the  second  ones  of  the  indices  remain  short.  This  makes  the  difference 
between  the  lengths  of  II  2  and  IV  2  far  less  striking  than  it  will  be 
in  the  adult  individual. 

The  actual  lengths  of  II  2  and  IV  2  in  this  case  are  8  and  23  mm. 
respectively  on  the  right  hand,  10  and  23  mm.  on  the  left  hand.  It 
will  be  noticed  that  the  shortened  phalanx  of  the  right  hand  is  markedly 
thicker  than  that  of  the  left. 

Genetically  this  individual  is  heterozygous  for  the  factor  for  brachy- 
phalangy. 

SEVENTH  FAMILY  OF  V  GENERATION. 

The  B-type  brachyphalangous  115.5  cT  H.  M.  H.  has,  by  his  mar- 
riage with  the  normal  D.  K.,  3  children,  1155.1-1155.2,  a  and  6,  the 
two  latter  identical  twins. 

1155.1  9  (b.  Mar.  26,  1913)  died  the  day  of  birth.  Parturition 
was  complicated  and  the  child  had  to  be  mutilated.  Her  father  states 
that  nothing  is  known  regarding  her  hands. 


FAMILY   RECORD.  35 

1155.2  a  9  R.  S.  H.  and  1155.26  9  I.  J.  H.  are  identical  twins  (b. 
Sept.  19,  1915).  Genetically  these  two  individuals  are  to  be  regarded 
as  identical,  a  view  that  is  supported  in  an  interesting  way  by  the  fact 
that  they  both  have  brachyphalangous  indices  of  exactly  the  same 
type.  The  photographs  (figs.  16  and  17)  showing  their  hands  had 
to  be  taken  under  very  unfavorable  conditions,  but  still  show  the 
brachyphalangy  fairly  well. 

It  has  not  been  possible  to  take  radiographs  of  the  children,  because 
they  live  in  a  distant  community  and  nothing  absolutely  certain  can 
therefore  be  said  concerning  the  type  of  the  malformation;  but  the 
fact  that  the  photographs,  which  were  taken  when  the  children  were 
a  little  more  than  two  years  old,  already  show  a  very  marked  shorten- 
ing of  the  indices  makes  it  exceedingly  probable  that  the  shortening 
later  will  prove  to  be  of  the  B  !-type. 

Genetically  the  two  children  are  heterozygous  for  the  factor  for 
brachyphalangy. 

Summing  up,  we  find  that  the  B-type  brachyphalangous  115.5  cf 
had  one  child  concerning  whom  no  information  is  obtainable  and  two 
brachyphalangous  twins,  probably  of  the  B  !-type.  These  two  indi- 
viduals have  developed  from  one  egg.  When  we  later  work  out  the 
numerical  ratio  between  brachyphalangous  and  normal  members  of 
the  families  here  studied,  they  will  have  to  be  counted  as  one  individual. 

EIGHTH  FAMILY  OF  V  GENERATION. 

The  B!-type  brachyphalangous  115.6  cf  C.  S.  H.  has  by  his  mar- 
riage with  the  normal  N.  G.  one  son,  1156.1  cf . 

On  external  examination  and  in  photographs  the  hands  of  1156.1  cf 
C.  R.  H.  (b.  May  23,  1907)  look  normal.  The  distance  between  the 
second  and  third  grooves  at  the  inside  of  the  indices  looks  perhaps 
slightly  shortened  and  the  second  phalanges  of  the  indices  seem  to  be 
a  little  narrower  than  usual  in  a  normal  hand.  It  can  not  be  denied 
that  the  shape  of  the  index  fingers  as  a  whole  reminds  one  somewhat 
of  the  B-type  brachyphalangy. 

The  radiographs,  however,  give  measures  of  the  phalanges  which 
fall  well  inside  the  limits  of  variation  in  normal  hands.  The  lengths 
of  II  2  and  IV  2  are  17  and  21  mm.  on  the  right  hand,  17  and  22  mm. 
on  the  left  hand. 

The  second  phalanges  of  the  indices  are  a  little  irregular,  showing 
slightly  oblique  terminal  articular  surfaces;  but  the  irregularities  men- 
tioned are  so  slight  that  the  examination  as  a  whole  leads  to  the  result 
that  1156.1  cT  is  a  normal  individual,  free  from  brachyphalangy.  With 
the  above-mentioned  special  features  in  mind  it  is  perhaps  safe,  how- 
ever, to  make  a  reservation  until  this  conclusion  can  be  confirmed  by 
examination  of  the  descendants  of  the  individual. 

The  investigation  of  1151.2  9  explains  why  this  reservation  seems 
indicated. 


36  A   NEW  TYPE   OF   BRACHYPHALANGY   IN  MAN. 

NINTH  FAMILY  OF  V  GENERATION. 

The  normal  115.7  9  L.  H.  has  by  her  marriage  with  the  normal 
J.  H.  one  son,  1157.1  cf. 

1157.1  d"  R.  H.  G.  H.  (b.  May  14,  1911).  Photographs  and  radio- 
graphs of  his  hands  show  that  he  is  normal,  Lengths  of  II  2  and  IV  2 
on  both  hands  are  14  and  17  mm.  respectively. 

TENTH  FAMILY  OF  V  GENERATION. 

The  B!-type  brachyphalangous  115.8  cf  I.  H.  has  by  his  marriage 
with  the  normal  O.  M.  G.  K.  one  son,  1158.1  cf . 

1158.1  cf  H.  L.  H.  (b.  July  19,  1914).  Photographs  and  radiographs 
of  his  hands  show  that  he  is  normal.  Lengths  of  II  2  and  IV  2  are  13 
and  17  mm.,  respectively,  on  both  hands. 

LINE  1,  VI  GENERATION. 

The  sixth  generation  of  line  1  so  far  includes  4  families,  2  of  them 
belonging  to  the  descendants  of  the  normal  11.4  9  L.  A.  H.  H.  (p.26)  and 
2  to  that  of  the  B!-type  brachyphalangous  11.5  rf  C.  A.  B.  H.  (p.  26). 

FIRST  FAMILY  OF  VI  GENERATION. 

The  normal  1146.1  9  G.  H.,  by  her  marriage  with  the  normal  C.  C., 
has  2  children,  11461.1  &  P.  C.  (b.  Aug.  17, 1913)  and  11461.2  d*  E.  C. 
(b.  June  7,  1916). 

SECOND  FAMILY  OF  VI  GENERATION. 

The  normal  1147.4  9  K.  L.  B.,  by  her  marriage  with  the  normal 
J.  J.,  has  2  children,  11474.1  and  11474.2. 

11474.1  c?  K.  L.  J.  (b.  May  29, 1911).    Photographs  and  radiographs 
of  his  hands  were  provided  as  a  test.  They  prove  that  he  is  quite  normal. 

Lengths  of  II  2  and  IV  2  are  13  and  16  mm.,  respectively,  on  the 
right  hand,  14  and  16  mm.  on  the  left  hand. 

11474.2  9  R.  B.  J.  (b.  Sept.  27,  1913). 

The  examination  proves  that  all  these  four  individuals,  descendants 
of  11.4  9  L.  A.  H.  H.,  are  perfectly  normal.  In  one  case  radiographs 
and  photographs  are  given  as  a  control. 

We  have  now  followed  the  total  descendants  of  this  individual, 
11.4  9,  through  three  generations.  Though  she  was  a  daughter  of 
the  brachyphalangous  1.1  9,  her  hands  were  normal  (see  p.  26).  In 
accordance  with  the  expectation  all  the  28  individuals  descended  from 
her  have  been  found  to  be  normal,  free  from  the  factor  for  brachy- 
phalangy. 

THIRD  FAMILY  OF  VI  GENERATION. 

The  B-type  brachyphalangous  2251.2  9  S.  G.,  by  her  marriage 
with  the  normal  O.  S.  R.,  has  a  son,  11512.1  d". 

11512.1  cT  O.  R.  (b.  Apr.  5,  1898).  A  photograph  of  his  hands  is 
given  in  fig.  18.  It  shows  a  typical  case  of  the  B  !-type  brachypha- 


FAMILY   RECORD.  37 

langy  and  needs  no  special  description.  The  radiographs  (fig.  45)  show 
the  degree  of  the  shortening.  The  second  phalanges  of  the  indices 
are  reduced  to  very  short  bones  with  two  surfaces  in  articulation  with 
the  I  and  III  phalanx. 

In  this  case  we  were  able  to  secure  radiographs  from  the  feet  also. 
They  show  exactly  the  same  shortening  of  the  second  phalanges  of  the 
toes,  a  further  control  of  the  fact  stated  above  that  the  brachyphalangy 
shows  vertical  correspondence. 

The  lengths  of  II  2  and  IV  2  of  the  right  hand  are  9  and  28  mm. 
respectively,  and  on  the  left  hand  8  and  27  mm. 

This  individual  is  genetically  heterozygous  for  brachyphalangy.  He 
represents  the  sixth  generation  of  brachyphalangous  individuals  among 
the  descendants  of  1  9  M.  K.  H.  We  have  been  able  to  trace  the 
inheritance  of  the  malformation  without  any  break  from  her  (1  9 ), 
through  1.1  9,  11.5  cf,  115.1  9,1151.2  9  to  the  family  member  in 
question  (11512.1).  All  of  these  were  brachyphalangous  and  genet- 
ically heterozygous  for  the  factor.  Among  them  are  the  most  pro- 
nounced cases  of  the  B  !-type  of  the  malformation  (11.5  cf)  as  well 
as  of  the  B-type  (1151.2  9). 

FOURTH  FAMILY  OP  VI  GENERATION. 

The  normal  1151.3  c?  S.  G.,  by  his  marriage  with  the  normal  J.  A., 
has  1  daughter,  11513.1  9  . 

11513.1  9  E.  G.  (b.  Oct.  10,  1911).  Photographs  and  radiographs 
prove  that  she  is  normal.  Lengths  of  II  2  and  IV  2  are  16  and  19 
mm.,  respectively,  on  the  right  hand,  16  and  18  mm.  on  the  left. 

We  have  now  given  a  complete  family  record  concerning  all  mem- 
bers of  line  1  and  line  7,  including  in  all  58  individuals. 

As  already  mentioned  we  have  not  yet  worked  out  any  of  the  other 
lines  to  the  same  extent.  In  one  of  the  lines,  line  9,  where  brachy- 
phalangy occurs,  we  have  secured  material  (photographs  and  radio- 
graphs) of  the  hands  of  members  of  the  IV,  V,  and  VI  generation  that 
are  now  living.  These  are  of  special  interest  because  they  furnish 
valuable  data  for  a  comparative  study  of  the  two  types  of  the  mal- 
formation we  are  dealing  with.  This  supplementary  material  will 
now  be  presented.  The  discussion  of  the  facts  obtained  will  be  post- 
poned until  this  is  done. 

LINE  9. 

The  B  !-type  brachyphalangous  1.9  c?  F.  J.  0.  (II  generation,  p. 
24),  by  his  marriage  with  the  unrelated  C.  R.,  from  Asker  near  Chris- 
tiania,  had  9  children,  19.1-19.9  (III  generation).  One  of  them, 
19.4  9  L.  E.  0.  (Nov.  10,  1838-Nov.  25,  1908),  married  in  1857  the 
normal  L.  J.  A.,  a  builder.  They  had  by  their  marriage  10  children, 


38  A   NEW   TYPE    OF   BRACHYPHALANGY   IN   MAN. 

representing  the  third  family  of  the  IV  generation,  line  9.  We  have 
been  able  to  examine  several  of  these  individuals  and  their  descendants 
of  the  V  and  VI  generation.  Only  this  part  of  the  line  9  will  here  be 
treated. 

The  children  of  19.4  9  L.  E.  0.  state  that  their  mother  had  normal 
fingers.  That  she,  however,  must  have  been  heterozygous  for  the 
factor  for  brachyphalangy  is  clear  in  view  of  the  fact  that  several  of 
the  children  are  brachyphalangous.  We  may  accordingly  safely  con- 
clude that  she  had  the  B-type  of  the  malformation. 

LINE  9,  IV  GENERATION. 
THIRD  FAMILY  OF  IV  GENERATION. 

This  family  comprises  the  10  children  of  19.4  9  L.  E.  0.  and  her 
unrelated  husband,  L.  J.  A.,  194.1-194.10.  To  avoid  confusion  we  may 
mention  that  several  of  these  individuals  later  changed  their  last  name. 
This  is  the  reason  why  the  last  initial  differs  within  the  same  family. 

194.1  9  C.  F.  A.  (b.  June  9,  1859)  emigrated  to  Minnesota,  where 
she  married  farmer  F.    No  children. 

Replying  to  inquiries  concerning  her  fingers,  she  answers  in  a  letter : 
"Both  my  index  fingers  are  a  little  shortened.  The  second  phalanx  is 
shortened.  Mother  had  not  shortened  fingers,  but  an  uncle  had  like 
mine."  It  is  clear  from  this  description  that  she  has  the  B-type 
brachyphalangy,  a  view  that  is  confirmed  by  the  entirely  different 
way  in  which  she  described  the  index  fingers  of  her  niece,  1942.1  9 
J.  G.,  who  has  the  B  !-type  brachyphalangy  (p.  40). 

194.2  cf  A.  K.  A.  G.  (b.  Sept.  22,  1860)  manager  of  a  restaurant, 
Bergen,  Norway.     The  photographs  (figs.   19,  20)  and  radiographs 
(fig.  46)  of  his  hands  represent  a  typical  case  of  the  B-type  of  brachy- 
phalangy and  need  no  further  description.    The  lengths  of  II  2  and 
IV  2  are  17  and  26  mm.  respectively  on  both  hands.    Aside  from  the 
second  phalanges  of  the  indices,  the  other  bones  of  the  hand  are  normal. 
This  man  married  twice.     By  his  first  marriage  he  has  a  daughter 
1942.1    9 .      By  his   second  marriage  with    the    normal,    unrelated 
A.  E.  M.  (b.  Jan.  30, 1880),  he  has  4  children  1942.2-1942.5  (pp.  40-41). 

194.3  cf  E.  A.  L.   (b.  Sept.  3,   1862),  manager,  Bergen,  Norway. 
Photographs  of  his  hands  are  given  in  figs.  21,  22.    Seen  from  the  dorsal 
side  they  could  easily  be  regarded  as  normal.    The  photograph  of  the 
volar  surface,  however,  in  connection  with  the  radiograph  (fig.  47), 
reveals  a  clear  case  of  B-type  brachyphalangy.    The  lengths  of  II  2 
and  IV  2  are  22  and  30  mm.  respectively  on  both  hands. 

E.  A.  L.  married  the  normal,  unrelated  A.  M.  S.  (b.  Aug.  9,  1865) 
and  has  5  children,  1943.1-1943.5  (pp.  41-42). 

194.4  9  K.  O.  A.  (Sept.  25, 1864r-1914).    Emigrated  to  Alaska,  where 
she  married  the  unrelated  J.  O.  and  had  4  children,  1944.1-1944.4. 
No  information  concerning  her  own  or  her  children's  hands  has  been 
available. 


FAMILY   RECORD.  39 

194.5  9  L.  E.  A.    (b.   Apr.   29,    1866)   emigrated   to   Oregon  and 
married  the  unrelated  driver  E.     She  has  6  children,  1945.1-1945.6 
(p.  42).    In  a  letter  she  states  that  her  own  hands  are  normal,  but  that 
one  of  her  sons  has  shortened  index  fingers.    Her  description  of  his 
hands  is,  however,  very  confused  and  it  is  only  with  great  reservation 
we  may  assume  that  she  is  heterozygous  for  brachyphalangy  while  we 
lack  a  more  exact  description  and  photographs  of  her  hands  and  those 
of  her  son. 

194.6  9  V.  H.  A.  (b.  May  18,  1868)  Christiania,  Norway.    We  have 
examined  this  individual  and  found  that  her  hands  are  normal.    She 
married  the  normal  L.  and  has  a  son.    We  have  not  examined  his 
hands,  but  his  relatives  state  that  they  are  normal,  which  was  to  be 
expected. 

194.7  9  S.  A.,   Christiania,  Norway.     Photographs  of  her  hands 
are  given  in  fig.  21  and  fig.  22.    The  III  and  IV  fingers  on  one  hand 
were  injured  by  an  accident.    Also  in  this  case  the  hands  when  seen 
from  the  dorsal  surface  would  easily  be  regarded  as  normal.    As  seen 
from  the  volar  surface,  however,  the  second  phalanges  of  the  indices 
are  markedly  shortened,  judging  from  the  distance  between  the  second 
and  third  grooves. 

The  radiographs  (fig.  48)  prove  definitely  the  brachyphalangous 
condition,  the  lengths  of  II  2  and  IV  2  being  18  and  28  mm.  respect- 
ively on  both  hands.  Like  both  her  older  brothers,  she  has  the  B-type 
of  brachyphalangy. 

She  married  Aa.  and  has  a  daughter,  1947.1  (p.  43). 

194.8  <f  H.  0.  (b.  Feb.  15,  1874),  Christiania,  Norway.    Seen  from 
the  dorsal  surface  the  hands  of  this  man  look  as  if  they  were  normal 
(fig.  23).    From  the  inside,  however  (fig.  24),  the  second  phalanges  of 
the  indices  seem  to  be  slightly  shortened,  because  the  distance  between 
the  second  and  third  grooves,  compared  with  the  corresponding  distance 
on  the  fourth  finger,  is  shorter  than  is  the  case  in  a  normal  hand. 

On  the  other  side,  the  radiographs  (fig.  49)  give  measures  of  the 
phalanges  which  fall  within  the  limits  of  variation  in  normal  hands 
based  on  the  material  collected  by  Pfitzner.  The  lengths  of  II  2  and 
IV  2  are  22  and  27  mm.  respectively  on  both  hands.  A  radiograph 
from  the  right  foot  (fig.  50)  shows,  however,  a  marked  shortening  of 
the  second  phalanx  of  the  second  toe.  This  fact  taken  together  with 
the  appearance  of  the  volar  surface  of  the  indices  and  the  information 
the  man  gives  spontaneously  that  he  uses  the  third  finger  instead  of  the 
second  in  all  sorts  of  finer  work,  indicates  that  he  is  really  brachy- 
phalangous. He  states  that  when  he  unties  a  knot  he  always  uses 
the  third  finger,  as  he  also  does  when  he  picks  up  a  needle  from  the 
floor  and  in  doing  similar  delicate  operations  with  his  fingers.  We 
accordingly  interpret  this  case  as  an  instance  of  the  B-type  of  bra- 
chyphalangy, corresponding  to  that  of  1151.2  9  (p.  33).  This  man 
is  not  married  and  therefore  the  genetic  proof  can  not  be  obtained,  as 
it  could  in  the  other  case  just  mentioned. 


40  A   NEW  TYPE   OF   BRACHYPHALANGY   IN   MAN. 

194.9  cf  L.  S.  A.     This  man  emigrated  to  the  United  States  and 
lives  in  San  Francisco.    He  married  a  lady  from  western  Norway  and 
has  several  children.    Our  efforts  to  get  information  concerning  this 
individual  and  his  children  have  hitherto  led  to  no  result. 

194.10  9  L.  S.  A.    She  died  at  the  age  of  two  years  and  nothing  is 
known  concerning  her  hands. 

Summing  up,  it  will  be  seen  that  our  information  concerning  the 
members  of  this  family  is  incomplete.  Out  of  10  members,  we  have 
been  able  to  examine  only  5;  of  these,  4  are  brachyphalangous  of  the 
B-type  and  one  is  normal.  In  one  more  case  we  have  obtained  direct 
information  which  indicates  that  the  individual  is  brachyphalangous 
of  the  B-type.  In  still  another  case,  where  we  have  obtained  direct 
information,  the  description  of  the  hands  is  too  imperfect  to  be  of  use. 

LINE  9,  V  GENERATION. 

In  this  record  of  the  V  generation,  line  9,  only  the  families  belonging 
to  the  descendants  of  the  individuals  194.2  cf,  194.3  cf,  194.5  9 ,  and 
194.7  9  will  be  dealt  with.    They  represent  families  6, 7, 8, 11,  and  12, 
of  the  V  generation,  line  9 ;  and  family  1  of  the  VI  generation. 
SIXTH  FAMILY  OF  V  GENERATION. 

The  B-type  brachyphalangous  194.2  cf  A.  N.  A.  C.,  by  his  first 
marriage  with  an  unrelated  wife,  has  a  daughter,  1942.1  9  . 

1942.1  9  J.  G.   (b.  July  7,  1883),  living  in  Chicago,  Illinois.     A 
photograph  of  her  hands  is  given  in  fig.  27.    Both  from  the  dorsal  and 
from  the  volar  surface  a  very  striking  shortening  of  the  indices  is 
clearly  seen.    The  distance  between  the  second  and  third  groove  on 
the  inside  of  the  index  fingers  is  very  much  shorter  than  is  the  case 
in  normal  hands.    The  affected  fingers  are  straight. 

The  radiographs  (fig.  51)  prove  that  the  brachyphalangy  is  restricted 
to  the  second  phalanx  of  the  indices  only.  The  shortened  phalanx 
has  two  articular  surfaces,  but  the  form  is  markedly  changed,  the 
whole  bone  being  thickened  and  clumsy.  The  shortening  is  somewhat 
asymmetrical,  most  pronounced  on  the  right  hand.  The  lengths  of 
II  2  and  IV  2  are  8  and  25  mm.  respectively  on  the  right  hand,  11  and 
25  mm.  on  the  left  hand.  The  external  aspect  of  the  indices,  as  well 
as  the  radiographs,  makes  it  clear  that  we  are  dealing  with  a  case  of 
B  !-type  brachyphalangy,  the  only  certain  one  within  line  9. 

This  individual,  who  is  heterozygous  for  the  factor  for  brachypha- 
langy, married  0.  P.  H.  and  has  had  3  children,  19421.1-19421.3  (p.  43). 
SEVENTH  FAMILY  OF  V  GENERATION. 

194.2  d*  A.  K.  A.  G.,  by  his  second  marriage  with  the  unrelated, 
normal  A.  E.  M.,  has  4  children,  1942.2-1942.5. 

1942.2  9  G.  E.  G.  (b.  Jan.  4,  1908).    Photographs  and  radiographs 
of  her  hands  show  that  she  is  normal.    The  lengths  of  II  2  and  IV  2 
are  respectively  18  and  22  mm.  on  the  right  hand,  17  and  22  mm.  on 
the  left  hand. 


FAMILY   RECORD.  41 

1942.3  9  A.  E.  G.   (b.   Dec.   16,   1910).     Photographs  and  radio- 
graphs of  her  hands  prove  that  she  is  free  from  brachyphalangy.    The 
lengths  of  II  2  and  IV  2  are  15  and  19  mm.  respectively  on  both  hands. 

1942.4  d"  E.  L.  H.  G.   (b.  July  1,  1912).     Photographs  and  radio- 
graphs from  his  hands  prove  that  he  is  free  from  brachyphalangy.    The 
lengths  of  II  2  and  IV  2  are  17  and  19  mm.  respectively  on  both  hands. 

1942.5  d1  A.  M.  G.  (b.  Aug.  16,  1914).    A  photograph  and  a  radio- 
graph of  his  hands  are  given  in  fig.  28  and  fig.  52.    The  radiograph 
shows  that  the  second  phalanges  of  the  indices  are  markedly  shortened, 
even  shorter  than  the  corresponding  phalanges  of  the  fifth  fingers. 

The  epiphysial  cartilages  are  present  and  the  external  aspect  of  the 
hands  makes  it  clear  that  we  are  here  dealing  with  the  B-type  of 
brachyphalangy.  The  lengths  of  II  2  and  IV  2  are  8  (?)  and  15  mm. 
on  the  right  hand,  9  and  15  mm.  on  the  left  hand.  The  individual  is 
genetically  heterozygous  for  the  factor  for  brachyphalangy. 

Summing  up,  we  have  been  able  to  show  that  the  B-type  brachy- 
phalangous  194.2  cf  A.  K.  A.  G.  has  one  B  !-type  brachyphalangous 
child  by  his  first  marriage.  By  his  second  marriage  he  has  3  normal 
children  and  one  child  brachyphalangous  of  the  B-type. 

EIGHTH  FAMILY  OF  V  GENERATION. 

The  B-type  brachyphalangous  194.3  cf  E.  A.  L.,  by  his  marriage 
with  the  normal  A.  M.  S.,  has  5  children,  1943.1-1943.5. 

1943.1  c?  E.  A.  L.  (b.  June  26,  1899).    The  photographs  and  radio- 
graphs, figs.  29,  30,  and  53,  are  typical  for  a  case  of  B-type  of  brachy- 
phalangy.    The  shortening  of  the  distance  between  the  two  distal 
grooves  of  the  index  fingers  is  very  marked  and  can  be  noticed  both 
from  the  dorsal  and  volar  surface  of  the  hand.    The  lengths  of  II  2 
and  IV  2,  measured  from  the  radiographs,  are  22  and  29  mm.  on  the 
right  hand,  21  and  29  mm.  on  the  left  hand. 

In  Pfitzner's  material  only  1  out  of  301  normal  hands  is  found  which 
shows  the  same  lengths  of  II  2  and  IV  2  as  in  the  right  hand  of  this 
individual.  This  case  represents  an  extreme  variation,  but  it  furnishes 
us  with  another  example  analogous  to  that  of  1151.2  9  S.  R.,  dis- 
cussed above. 

The  brachyphalangous  condition  of  this  individual  is  clearly  indi- 
cated, however,  by  the  external  aspect  of  the  hands;  and  the  relative 
lengths  of  II  2  and  IV  2  of  the  left  hand  fall  outside  the  limits  of 
extreme  variation  in  normal  hands. 

The  individual  is  genetically  heterozygous  for  the  factor  for  brachy- 
phalangy. 

1943.2  cf  H.  J.  L.  (b.  Aug.  26, 1900) .     His  hands  are  perfectly  normal 
as  shown  from  photographs  and  radiographs.     Lengths  of  II  2  and  IV  2 
are  25  and  30  mm.  respectively  on  the  right  hand,  25  and  29  mm.  on 
the  left  hand. 


42  A   NEW   TYPE    OF   BRACHYPHALANGY   IN   MAN. 

1943.3  cf  H.  R.  L.  (b.  Feb.  28,  1902).     His  hands  are  normal,  as 
shown  by  photographs  and  radiographs.     Lengths  of  II  2  and  IV  2 
are  24  and  29  mm.  respectively  on  the  right  hand,  25  and  30  mm.  on  the 
left  hand. 

1943.4  9  E.  M.  L.  (b.  Aug.  1, 1903).    The  photographs  (figs.  31,  32) 
and  radiographs  (fig.  54)  of  her  hands  give  us  a  typical  case  of  the 
B  type  of  brachyphalangy.    The  volar  surface  of  the  indices  shows  the 
characteristic  shortening  of  the  distance  between  the  second  and  third 
grooves  of  the  indices.    The  lengths  of  II  2  and  IV  2,  measured  from 
the  radiographs,  are  21  and  29  mm.  on  the  right  hand,  20  and  29  mm. 
on  the  left  hand.    The  epiphysial  cartilages  of  the  shortened  phalanges 
are  present.    She  was  14  years  old  when  the  radiographs  were  taken. 
She  is  heterozygous  for  the  factor  for  brachyphalangy. 

1943.5  9  E.  S.  L.  (b.  Dec.  30,  1907)  represents,  as  the  photographs 
(figs.  33,  34)  and  radiographs  (fig.  55)  demonstrate,  a  very  characteristic 
case  of  the  B-type  of  brachyphalangy.     The  distance  between  the 
second  and  third  grooves  of  the  indices  is  characteristically  shortened. 
The  second  phalanx  of  the  index  of  the  left  hand  is  a  little  irregular  in 
shape.    This  calls  forth  a  slight  bending  in  the  radial  direction  of  the 
terminal  phalanx  of  this  finger.    The  epiphysial  cartilage  is  present  in 
both  the  affected  phalanges.    The  individual  was  10  years  old  when 
the  radiographs  were  taken. 

The  lengths  of  II  2  and  IV  2  are  13  and  22  mm.  respectively  on  both 
hands.  The  individual  is  genetically  heterozygous  for  the  factor  for 
brachyphalangy. 

Summing  up,  we  find  that  the  B-type  of  brachyphalangous  194.3 
c?  E.  A.  L.  has  2  normal  and  3  B-type  brachyphalangous  children. 
TENTH  FAMILY  OF  V  GENERATION. 

194.5  9  L.  E.  A.,  by  her  marriage  with  the  normal  E.,  has  6  children, 
1945.1-1945.6. 

1945.1  9  B.  M.  E.  (b.  1893). 

1945.2  cf  L.  H.  E.  (b.  1895). 

1945.3  9  H.  E.  (b.  1896). 

1945.4  9  A.  M.  E.  (b.  1898). 

1945.5  d"  A.  M.  E.  (b.  1899). 

1945.6  cf  H.  E.  E.  (b.  1902). 

The  information  obtained  concerning  this  family  is  very  unsatis- 
factory. Then*  mother  states  in  a  letter : 

"We  have  one  son  in  our  family  who  has  both  index  fingers  shorter  than 
they  ought  to  be.  It  is  the  end  of  the  finger,  the  joint  nearest  to  the  nail 
which  is  shorter  than  it  ought  to  be.  It  looks  as  if  he  had  no  joint  there;  he 
can  not  bend  it." 

Several  attempts  to  obtain  a  better  description  or  photographs  have 
failed,  and  we  have  therefore  refrained  from  paying  any  attention  to 
the  information  in  the  discussion.  The  only  thing  which  probably 


FAMILY    RECORD.  43 

may  be  concluded  from  these  data  is  that  brachyphalangy  occurs  in 
the  offspring  of  194.5  9  L.  E.  A.,  and  that  she  herself  is  heterozygous 
for  the  factor  for  the  malformation.  As  to  the  type  of  her  son's  brachy- 
phalangy no  conclusions  can  be  drawn. 

TWELFTH  FAMILY  OF  V  GENERATION. 

The  B-type  brachyphalangous  194.7  9  S.  A.,  by  her  marriage  with 
the  normal  Aa,  has  1  daughter,  1947.1  9  . 

1947.1  9  E.  Aa.  (b.  1908).  She  is,  as  the  photographs  (figs.  35,  36) 
and  radiographs  (fig.  56)  indicate,  brachyphalangous  of  the  B-type. 
The  lengths  of  II  2  and  IV  2  are  15  and  21  mm.  respectively  on  both 
hands.  The  epiphysial  cartilages  of  the  affected  phalanges  are  present. 
The  individual  is  heterozygous  for  the  factor  for  brachyphalangy. 

LINE  9,  VI  GENERATION. 
FIRST  FAMILY  OF  VI  GENERATION. 

The  B-type  brachyphalangous  1942.1  9  J.  G.,  by  her  marriage  with 
the  normal,  unrelated  0.  P.  H.,  has  had  3  children,  19421.1-19421.3. 

19421.1  <?  F.  L.  H.  (July  6,  1905-Jan.  29,  1907)  and  19421.2  d1 
S.  V.  H.  (Oct.  4,  1906-May  4,  1907).  Both  died  young  and  according 
to  the  statement  of  their  mother  they  had  normal  hands. 

19421.3  d*  R.  F.  H.  (b.  June  26,  1911).  Radiographs  of  his  hands 
(fig.  38)  prove  that  he  is  free  from  brachyphalangy.  Lengths  of  II  2 
and  IV  2  are  18  and  21  mm.  respectively  on  the  right  hand,  18  and  20 
mm.  on  the  left  hand. 

Summing  up,  it  is  probable  that  the  three  children  of  the  B  !-type 
brachyphalangous  19421.1  9  all  have  been  free  from  brachyphalangy. 
The  possibility  that  one  or  both  of  the  two  sons  who  died  young  may 
have  been  brachyphalangous  of  the  B-type  can  not,  however,  be 
excluded. 

The  supplementary  material  we  have  been  able  to  obtain  within  the 
"line  9"  of  the  family  comprises  radiographs  and  photographs  of  10 
brachyphalangous  and  6  normal  individuals.  The  interesting  point 
here  is  that  the  B-type  of  the  malformation  seems  to  be  prevailing 
within  this  line,  descending  from  the  B  !-type  brachyphalangous  1.9 
o"  F.  J.  p.  In  only  one  case  have  we  seen  the  B  !-type  occur  among 
his  descendants;  and  a  limited  investigation  would  easily  have  led  to 
the  conclusion  that  all  the  brachyphalangous  individuals  of  this  line 
belonged  to  the  B-type,  in  striking  contrast  to  what  was  the  case  in 
"line  1." 


44  A   NEW  TYPE   OF   BRACHYPHALANGY   IN   MAN. 

VI.  HEREDITARY  TYPE  OF  THE  CHARACTER  STUDIED. 
1.  GENERAL  DISCUSSION. 

On  the  basis  of  the  data  given  in  the  family  record,  it  is  now  possible 
to  state  the  hereditary  type  of  the  malformation  with  absolute  cer- 
tainty. It  is  not  necessary  to  emphasize  that  we  are  dealing  with  a 
clear-cut  case  of  Mendelian  heredity  (cf.  the  pedigree).  The  funda- 
mental Mendelian  principle,  the  principle  of  segregation,  is  strikingly 
demonstrated.  The  character  behaves  in  every  respect  as  a  typical 
mutant  character. 

In  line  1  we  have  been  able  to  follow  the  brachyphalangy  for  6  gen- 
erations through  heterozygous  individuals,  who  may  have  brachy- 
phalangous  or  normal  children.  The  latter  are  free  from  the  gene 
causing  brachyphalangy  and  their  descendants  will  be  normal — 
provided  no  intermarriage  with  brachyphalangous  individuals  takes 
place.  A  good  illustration  of  this  fact  is  11.4  9  L.  A.  H.  H.,  a  daughter 
of  the  brachyphalangous  1.1  9  G.  H.  0.  Her  hands  were  normal  and 
all  the  28  individuals  of  her  descendants  in  the  following  three  genera- 
tions are  free  from  brachyphalangy,  as  was  to  be  expected. 

The  character  is  not  sex-linked,  as  may  be  easily  seen  from  the 
pedigree. 

The  fact  that  the  brachyphalangy  appears  in  heterozygous  individ- 
uals shows  that  it  is  a  dominant  character,  and  the  material  we  are 
dealing  with  furnishes  us  with  interesting  facts  for  a  further  discussion 
of  this  special  point. 

The  individuals  showing  a  dominant  character  in  human  material 
will  in  the  large  majority  of  cases  be  heterozygous  for  the  factor 
involved.  Intermarriage  is  in  general  rare  and  it  is  obvious  that 
individuals  affected  by  the  same  hereditary  malformation  are  even 
more  unlikely  to  marry  each  other. 

Although  the  data  concerning  dominant  hereditary  malformations  in 
man,  therefore,  are  generally  restricted  to  heterozygous  individuals,  it 
is  nevertheless  usually  taken  for  granted  that  the  dominant  character 
described  is  the  same  that  would  appear  in  homozygous  individuals. 
Besides  this,  another  statement  is  very  often  met  with,  namely,  that 
the  characteristic  for  a  dominant  character  is  the  fact  that  it  never 
skips  a  generation,  in  the  sense  that  only  individuals  that  show  the 
character  can  transmit  it  to  their  children.  Both  these  points  are  open 
to  serious  criticism.  A  reservation  is  necessary,  especially  because 
both  matters  are  of  importance  from  a  medical  point  of  view. 

It  must  first  be  strongly  emphasized  that  a  knowledge  of  the  effect  of 
a  gene  when  heterozygous  by  no  means  entitles  us  to  conclude  that  the 
effect  will  be  the  same  when  it  is  homozygous.  The  complete  domi- 
nance found,  for  instance,  in  mice,  where  a  gray  individual  heterozy- 
gous for  albino  can  not  be  somatically  distinguished  from  homozygous 


HEREDITARY   TYPE   OF   CHARACTER   STUDIED.  45 

gray  individuals,  represents  an  extreme  condition.  Numerous  cases, 
both  in  animal  breeding  and  in  experimental  heredity,  present  a 
striking  difference  in  the  character  when  the  dominant  genes  are 
homozygous  and  when  they  are  heterozygous. 

In  this  connection  the  following  statements  might  be  quoted : 

"The  failure  of  many  characters  to  show  complete  dominance  raises  doubt 
as  to  whether  there  is  such  a  condition  as  complete  dominance."  (Morgan, 
Sturtevant,  Muller,  and  Bridges,  1915.) 

Baur  in  his  book  (1914)  emphasizes  the  same  point: 

"Man  hat  dieser  Dominanzerscheinung,  die  durchaus  keine  allgemeine 
Regel  ist,  vielfach  iibertrieben,  grosse  Bedeutung  zugeschrieben  und  von 
einer  '  DominanzregeP  gesprochen.  Das  ist  ganz  verkehrt.  Eine  irgendwie 
allgemein  giiltige  Dominanzregel  giebt  es  nicht  und  sehr  haiifig  ist  eine 
Dominanz  nur  scheinbar." 

The  same  opinion  is  expressed  by  East  (1916) : 

"But  as  a  matter  of  fact,  absolute  dominance  is  rare.  A  heterozygous  gene 
very  seldom  produces  an  effect  identical  with  that  of  homozygous  genes." 

Many  examples  might  be  used  to  illustrate  this  relation.  One  of  us 
(Wriedt)  studied  a  case  of  " short  ears"  in  sheep  which  behaves  as  a 
dominant  character  (Wriedt,  1914, 1916, 1919;Ritzman,  1916).  Recently 
we  have  been  able  to  see  the  offspring  of  two  short-eared  sheep.  In 
some  of  these  the  external  ears  are  entirely  absent.  These  are  probably 
the  homozygotes. 

One  of  the  most  striking  cases  of  this  kind  is  found  in  the  mutant 
character  Star  in  Drosophila  melanogaster  (s.  ampelophila) ,  found  by 
Dr.  Bridges.  Star  has  been  very  much  used  in  the  experimental 
analysis  in  Dr.  Morgan's  laboratory  in  the  past  few  years  and  an 
account  of  the  character  is  now  in  press.  Dr.  Bridges  has  kindly  per- 
mitted us  to  refer  to  the  case,  which  in  many  respects  furnishes  us  with 
very  interesting  parallels  to  the  character  we  are  here  dealing  with. 
Star  is  a  dominant  eye  character.  When  heterozygous  the  gene  for 
Star  causes  a  slight  irregularity  of  the  ommatidia  of  the  eyes,  giving 
the  eye  surface  a  shimmering  aspect.  This  trifling  malformation  is  of 
no  practical  importance  and  does  not  affect  the  viability  of  the  indi- 
viduals at  all.  When  homozygous,  however,  this  gene  is  lethal.  Flies 
homozygous  for  Star  die  without  exception. 

The  mutant  character  Star,  here  chosen  as  an  example,  is  not  unique 
in  this  respect.  In  fact,  5  of  the  known  9  dominant  mutants  in  Dro- 
sophila are  completely  lethal  when  homozygous,  1  is  semilethal,  and 
only  3  are  not  lethal  when  homozygous  (Muller,  1917).  Another  well- 
known  example  is  the  yellow  body-color  in  mice  (Cue"not,  1915,  1918; 
Castle  and  Little,  1910). 

Just  as  Star  in  Drosophila,  so  the  brachyphalangy  here  described  is 
of  no  practical  importance  at  all  in  heterozygous  individuals.  But  it 


46  A   NEW   TYPE   OF   BRACHYPHALANGY   IN   MAN. 

is  well  worth  noticing  that  in  the  single  case  where  the  possibility  for 
homozygous  individuals  was  present  in  our  material,  a  child,  115.2 
9  C.  F.  H.,  was  born  who  was  a  cripple  " without  fingers  and  toes" 
and  "  with  her  whole  osseous  system  in  disorder."  As  described  above 
(pp.  28-29),  this  individual  was  unable  to  develop  and  died  when  one 
year  old.  The  possibility  that  we  are  here  dealing  with  a  homozygous 
individual  is  pointed  out  above. 

From  a  medical  point  of  view,  this  relation  is  of  great  importance. 
The  fact  that  an  hereditary  malformation  in  heterozygous  individuals 
is  without  any  practical  consequences  by  no  means  guarantees  that  the 
malformation  when  the  genes  are  homozygous  will  be  as  slight.  In 
similar  cases  a  physician  should  warn  affected  members  of  such  a 
family  against  marrying  each  other,  however  trifling  the  malformation 
may  be.  This  attitude  is  fully  justified  by  the  facts  established 
through  the  experimental  heredity  work. 

The  second  point  mentioned  above — a  statement  often  met  with  in 
publications  concerning  Mendelian  heredity  in  man — is  that  only 
individuals  who  show  the  dominant  character  are  able  to  transfer  it 
to  their  children.  Here,  too,  a  certain  amount  of  reservation  is  neces- 
sary, for  the  statement  disregards  entirely  the  fact  that  a  great  many 
Mendelian  characters  are  extremely  variable  in  their  somatic  appear- 
ance. This  holds  not  only  for  recessive  characters,  but  for  dominant 
characters  as  well. 

In  Drosophila,  for  instance,  numerous  mutations  are  found  that  in 
some  individuals  are  very  striking,  but  in  others  of  exactly  the  same 
genetic  constitution  are  not  visible  at  all.  Between  the  striking  appear- 
ance of  the  character  and  its  total  failure  of  somatic  manifestation  a 
series  of  variations  are  found. 

The  dominant  eye-character  Star  might  here  again  with  profit  be 
used  as  an  illustration.  In  some  individuals  this  character  is  very 
marked  in  its  appearance.  The  ommatidia  are  scattered  around 
without  any  regularity,  the  form  and  size  of  the  eye  is  influenced  and 
the  whole  aspect  is  entirely  different  from  that  of  the  eye  of  the  wild 
fly.  In  other  individuals  the  alterations  caused  by  the  Star  gene  are 
so  slight  that  it  requires  special  training  to  use  the  character  in  experi- 
mental work,  and  even  a  trained  observer  will  meet  cases  where  a 
genetic  test  is  necessary  to  decide  whether  the  individual  is  Star  or 
not.  Between  these  extremes  all  degrees  in  the  manifestation  of  the 
character  are  found. 

The  parallelism  with  the  character  we  are  here  dealing  with  in 
human  material  is  easily  seen.  Disregarding  the  question  of  two 
types,  to  be  discussed  later,  the  fact  is  that  some  of  the  heterozygous 
individuals  show  alterations  of  a  nature  so  striking  they  they  can  not 
escape  even  the  most  superficial  observer.  This  was,  for  instance,  the 
case  in  the  individuals  11.5  d",  H5.4  rf1,  115.8  d71,  and  11512.1  <? 


HEREDITARY   TYPE   OF   CHARACTER   STUDIED.  47 

(figs.  4,  7,  11,  and  18).  The  shortening  of  the  affected  phalanx  is  here 
so  pronounced  that  an  external  examination  might  lead  to  the  con- 
clusion that  it  was  entirely  absent.  On  the  other  side,  we  have  cases 
where  heterozygous  individuals  show  so  slight  an  alteration  that  the 
affected  individuals  themselves  do  not  realize  that  they  are  brachy- 
phalangous.  This  is  the  case  in  most  of  the  individuals  who  show  the 
B-type  of  brachyphalangy. 

The  most  instructive  example  here  is  the  individual  1151.2  9  S.  G. 
(figs.  13  and  14).  Even  measurements  provided  by  the  radiographs 
of  her  hands  fall  within  the  limits  of  extreme  variation  in  a  correlation 
table  made  up  from  measurements  from  normal  hands  (p.  53).  The 
slight  shortening  of  the  distance  between  the  second  and  third  grooves 
of  the  indices  is  as  a  diagnostic  very  uncertain,  and  from  the  examina- 
tion of  her  hands  it  would  be  perfectly  allowable  to  conclude  that  she 
is  somatically  normal.  That  she  nevertheless  is  genetically  brachy- 
phalangous  is  shown  by  the  fact  that  her  son  is  brachyphalangous  of 
the  B  !-type. 

This  controlled  case  is  perhaps  the  first  in  human  material  where 
an  individual  heterozygous  for  a  dominant  gene  is  shown  to  be  somati- 
cally normal.  It  is  valuable  because  an  exact  examination  can  be 
carried  out  through  the  radiograph,  while  the  test  of  the  genetic  con- 
stitution at  the  same  time  is  at  hand.  The  importance  of  such  an 
analyzed  case  is  obvious  from  several  points  of  view:  In  the  first 
place  it  gives  a  satisfactory  explanation  of  many  contradictions  in 
records  concerning  heredity  in  man.  The  situation  often  met  with  in 
such  publications,  that  characters  which  in  some  generations  show  a 
clear  Mendelian  inheritance  are  recorded  as  behaving  in  a  way  dis- 
agreeing with  Mendel's  laws,  is  easily  explained  by  the  supposition  of 
a  similar  occurrence.  Cases  are  well  known  where  authors  have  con- 
cluded from  such  material  that  the  results  obtained  in  experimental 
heredity  work  in  animals  and  plants  can  not  be  applied  to  inheritance 
in  man. 

A  very  characteristic  example  of  this  type  is  Rabaud's  paper  as 
recently  as  1912.  In  his  severe  criticism  of  "Le  dogme  mende'lien" 
as  applied  to  human  heredity  he  arrives  at  the  following  conclusion : 

"Un  jour  viendra  peut-ltre  ou,  grace  a  lui  [i.  e.,  'le  langage  physico-chi- 
mique ']  les  phe"nom6nes  de  la  vie,  les  phe'nomenes  h6r6ditaires  en  particulier, 
pouront  6tre  soumis  au  calcul.  Ce  jour-la,  n'en  doutons  pas,  les  formules 
mend61ien  paraitront  a  nos  arriSre-neveux  prodigieusement  naives." 

This  criticism  is  mainly  based  on  an  analysis  of  material  collected 
by  Vidal  (10),  who  followed  a  case  of  hereditary  brachyphalangy 
through  four  generations  "sans  se  pre*occuper  en  aucune  fagon  du 
point  de  vue  mende'lien"  (Rabaud). 

It  is  true  that  the  pedigree  given  by  Vidal  shows  exceptions  from 
the  Mendelian  rule  that  a  dominant  character  never  skips  a  generation, 


48 


A   NEW   TYPE   OF   BRACHYPHALANGY   IN   MAN. 


taken  in  its  old  uncritical  sense.  But  the  author  has  trusted  in  second- 
hand information  and  also  characterized  as  "not  brachyphalangous " 
several  members  of  the  family,  in  which  the  character  manifests  itself 
under  another  somatic  type,  "doigt  crochu"  (cf.  p.  12). 

A  case  so  extreme  as  that  of  1151.2  9  S.  G.,  discussed  above,  might 
be  comparatively  rare.  But  the  frequent  occurrence  of  very  slight 
shortening  of  the  affected  phalanx  in  the  heterozygous  individuals  in 
our  material  makes  it  clear  how  absolutely  insufficient  and  misleading 
second-hand  information  is  in  heredity  work  in  man. 

We  are  here  dealing  with  a  malformation,  in  many  individuals  better 
defined,  simpler,  and  therefore  more  easily  controlled  than  most  of  the 
hereditary  characters  hitherto  studied  in  human  material.  Here,  if 
anywhere,  it  might  a  priori  seem  probable  that  inquiries  directed  to 
the  family  members  would  furnish  a  trustworthy  basis  for  the  study 
of  the  heredity  of  the  malformation.  Yet  such  a  method  of  investiga- 
tion would  have  led  to  entirely  false  results.  In  fact,  almost  none  of 
the  B-type  individuals  would  have  been  recorded,  though  they  are  as 
numerous  as  the  B  !-type  ones.  A  pedigree  of  the  descendants  of 
11.5cf  C.  A.  B.  H.  as  it  would  have  looked  if  based  on  the  information 
obtained  from  family  members  and  examination  only  of  the  reported 
brachyphalangous  ones,  is  given  in  text-figure  2  as  an  illustration. 


REPORTED  TO  BE  NORMAL 

REPORTED  TO  BE  BRACHYPHALANGOUS 


TEXT-FIGURE  2.  —  Pedigree  of  the  descendants  of  11.5  cf  constructed  on  basis 
of  information  obtained  by  the  members  of  the  family. 

The  quite  unsatisfactory  nature  of  the  material  upon  which  Rabaud 
principally  founds  his  criticism  is  obvious  in  the  light  of  such  a  pedi- 
gree. 

When  a  personal  examination  of  all  family  members  has  shown  the 
complete  inadequacy  of  the  "second-hand"  method  of  collecting  data, 


HEREDITARY   TYPE   OF   CHARACTER   STUDIED.  49 

even  in  the  case  of  a  character  so  easily  controlled  as  the  one  here 
described,  it  is  superfluous  further  to  emphasize  how  much  more 
necessary  this  method  of  personal  examination  of  all  family  members 
is  when  far  more  vague  characters  are  studied.  This  is  especially  true 
when  applied  to  such  characters  as  physical  and  mental  defects  where 
the  diagnosis  is  difficult  even  for  a  trained  specialist,  not  to  mention 
cases  where  imponderabilia  (such  as  mental  abilities,  etc.)  are  the 
object  of  the  research. 

The  consequence  is  that  in  human  material,  where  one  observer  will 
not  be  able  to  examine  more  than  three,  or  in  especially  favorable 
cases  four,  generations  it  is  in  general  much  more  valuable  to  carry 
out  an  exact  examination  of  as  many  members  as  possible  of  these 
few  generations  than  to  try  to  follow  the  character  farther  backwards. 
The  only  source  of  information  is  here  in  most  cases  the  more  than 
questionable  memory  of  individuals  now  living,  and  the  reliability  of 
the  data  obtained  is  inversely  proportional  to  the  length  of  the  pedigree 
studied.  The  information  obtained  will  be  more  likely  to  decrease 
than  to  improve  the  value  of  the  investigation. 

It  is  unnecessary  to  mention  that  this  reasoning  is  especially  appli- 
cable to  the  study  of  dominant  characters  in  man.  Where  recessive- 
ness  is  involved  the  situation  is  of  course  different.  But  the  working 
out  of  the  heredity  of  recessive  characters  in  man  will  in  general  be 
possible  only  where  special  sources  of  information  are  at  hand — for 
instance,  in  the  case  of  Lundborg's  investigation  of  the  Myoclonus 
epilepsy  (1913). 

2.  THE  RATIO  BETWEEN  AFFECTED  AND  NORMAL  INDIVIDUALS. 

As  for  the  numerical  ratio  between  affected  and  normal  individuals 
in  the  families  here  studied,  the  expectation  is  that  half  of  the  children 
of  the  heterozygous  individuals  should  be  brachyphalangous,  provided 
no  intermarriage  of  heterozygotes  takes  place. 

In  many  publications  on  human  material  too  much  attention  is 
paid  to  the  question,  whether  the  actual  ratio  is  in  harmony  with  the 
Mendelian  expectation.  It  is  obvious  that  it  will  be  a  mere  chance  if 
distinct  " Mendelian  ratios"  are  found  in  material  where  the  frater- 
nities and  the  number  of  examined  individuals  are  so  small  as  is  the 
case  in  this  sort  of  heredity  work.  Not  the  numerical  ratios,  but  "the 
fundamental  principle  of  segregation,  is  the  essential  feature  of  Mendel's 
discovery."  (Morgan,  Sturtevant,  Muller,  and  Bridges,  1915.) 

In  this  publication  elaborate  information  has  been  given  concerning 
all  members  of  15  families,  born  alive,  in  which  one  of  the  parents 
was  heterozygous  for  brachyphalangy,  the  other  normal.  The  numeri- 
cal ratio  between  affected  and  normal  individuals  in  the  offspring  are 
shown  in  table  1. 


50 


A   NEW   TYPE    OF   BRACHYPHALANGY   IN   MAN. 


TABLE  1. — Numerical  ratio  between  affected  and  normal  individuals  in  the  offspring  of 

heterozygous  individuals. 


Normals. 

Brachy- 
phalangous. 

Notes. 

Generation  II,  first  family  

5 

51 

1  +  7  still-born  children  concern- 

Line 1. 
Generation  III,  first  family  .... 
Generation  IV,  third  family  
Generation  V,  fourth  family  .  .  . 
sixth  family  .... 

3 
2 
2 

2 
4 
1 
1 

ing  whom  no  information  is  avail- 
able. 

seventh  family  .  . 

I2 

2  Identical  twins  here  counted  as 

eighth  family  .  .  . 

1 

one   individual.     This   family   in- 

tenth family  .  .  . 

1 

cludes  one  mutilated  child,  concern- 

Generation VI,  third  family  .... 

1 

ing  whom  no  information  is  avail- 

Line 9. 
Generation  IV,  third  family  .... 
Generation  V,  sixth  family  

1 

5» 
1 

able. 

3  Four  other    members    of    this 
family    not    examined.     Informa- 

seventh family  .  . 
eighth  family  .  .  . 
twelfth  family  .  . 

3 

2 

1 
3 
1 

tion  concerning  their  hands  lacking. 

Generation  VI,  first  family  .... 

34 

4  Two  of  these  not  examined. 

23 

26 

This  ratio,  23  normals  to  26  brachyphalangous  individuals,  is  strik- 
ingly in  accord  with  the  expectation  1:1.  But  it  is  necessary  to  keep 
in  mind  the  source  of  error  introduced  by  the  fact  that  in  generations 
II  and  III  we  have  information  about  only  the  B  !-type  individuals. 
It  is  impossible  to  tell  if  some  of  the  family  members  here  characterized 
as  "normals"  in  reality  were  brachyphalangous  of  the  B  type. 

It  is  worth  mentioning  that  there  is  a  tradition  in  the  family,  as 
we  have  heard  several  times,  that  every  second  child  of  a  brachy- 
phalangous family  will  have  the  malformation  and  that  the  oldest 
one  always  is  affected.  The  germ  of  truth  in  this  tradition  is  that  half 
of  the  children  are  likely  to  be  brachyphalangous,  but  the  slightest 
attention  shows  that  the  family's  belief  in  alternative  repetition  is 
not  in  accord  with  the  facts.1 

We  have  in  our  material  one  case  interpreted  as  a  marriage  between 
two  individuals  heterozygous  for  brachyphalangy,  namely,  the  mar- 
riage between  11.5  rf1  C.  A.  B.  H.  and  his  cousin  17.1  9  F.G.0.  (p.  26). 
The  expectation  is  in  such  a  case  that  one  out  of  four  children  should 
be  normal,  while  two  should  be  heterozygous  and  one  homozygous  for 
brachyphalangy.  The  family  resulting  from  this  marriage,  family 
3  of  the  IV  generation,  comprises  2  individuals;  one  of  those  is  shown 
to  have  been  heterozygous  for  brachyphalangy.  The  reasons  support- 
ing the  supposition  that  the  other  was  homozygous  for  the  factor  are 
discussed  above  (pp.  44-46). 

1  After  this  chapter  had  been  written  we  noticed,  curiously  enough,  that  Farabee  met  exactly 
a  similar  tradition  in  the  family  studied  by  him:  "The  family  tradition  is  that  every  other  child 
born  of  a  short-fingered  parent  has  short  fingers"  (1905). 


HEREDITARY   TYPE    OF   CHARACTER   STUDIED. 


51 


3.  THE  B-TYPE  AND  THE  Bl-TYPE. 

In  the  general  description,  as  well  as  in  the  description  of  the  single 
cases  of  brachyphalangy,  it  has  been  stated  that  the  anomaly  here 
studied  manifests  itself  in  two  different  somatic  types,  the  B-type 
(brachyphalangous,  shortened)  and  the  B  !-type  (very  brachypha- 
langous,  much  shortened).  The  reasons  why  this  distinction  seems 
indicated  may  now  be  discussed. 

It  has  already  been  pointed  out  that  in  the  diagnosis  of  this  char- 
acter the  general  aspect  of  the  index  fingers,  and  the  distance  between 
the  two  distal  grooves  especially  might  be  used  as  valuable  and  often 
fully  sufficient  diagnostic  features.  But  better  than  this  method  of 
diagnosis  by  mere  inspection  is  the  one  based  on  the  objective  measure- 
ments of  the  phalanges  obtained  from  the  radiographs,  which  are  far 
more  trustworthy  indices. 

The  supposition  that  we  here  are  dealing  with  two  distinct  somatic 
types  of  brachyphalangy  is  confirmed  by  the  analysis  of  these  measure- 
ments. To  be  able  to  estimate  from  the  measure  of  a  certain  phalanx 
whether  a  shortening  is  present,  it  is  evidently  necessary  to  have  an 
exact  normal  standard  of  comparison.  The  material  here  used  is 
obtained  from  measurements  of  the  hand  bones  of  301  normal-hand 
skeletons,  given  by  Pfitzner  (1892, 1893) .  It  needs  no  explanation  that 
absolute  values  are  useless  for  our  purpose.  The  point  is  not  whether 
the  questioned  phalanx  is  shorter  than  the  corresponding  phalanx  of 
an  average  normal  hand,  but  whether  it  is  shortened  in  comparison 
with  the  normal  finger  bones  of  the  same  hand.  It  has,  therefore,  been 
necessary  to  calculate  the  correlation  coefficients  between  different 
finger  bones  in  normal  hands. 

Based  on  Pfitzner's  material,  the  correlation  coefficients  were  worked 
out  for  the  lengths  of  the  first  and  second  phalanx  of  the  index  finger  (II 1 
and  II  2)  of  the  second  phalanx  of  index  and  middle  finger  (II  2  and 
III  2)  and  of  the  second  phalanx  of  the  index  and  ring  finger  (II  2 
and  IV  2).  The  values  obtained  are  given  in  table  2. 

TABLE  2. — Coefficient  of  correlation  for  lengths  of  different  phalanges,  based 
on  Pfitzner1  s  material  of  skeleton  measurements. 


Coefficient  of  correlation 
for  length  of  — 

n. 

r. 

P.  e. 

II  1  and  II  2  

301 

0.81 

±  0.013 

II  2  and  III  2  

299 

0.78 

=*=  0.015 

II  2  and  IV  2  

301 

0.91 

±  0  007 

The  result  shows  that  there  is  a  very  high  correlation  between  the 
lengths  of  the  second  phalanges  of  the  second  and  ring  finger,  and  the 
latter  measure  is  therefore  used  for  comparison  when  estimating 
whether  II  2  is  shortened  or  not. 


52 


A  NEW  TYPE  OF  BRACK YPHALANGY  IN  MAN. 


Table  3  gives  (in  millimeters)  the  lengths  of  the  second  phalanges 
of  the  index  and  ring  fingers  measured  from  the  radiographs  repre- 
senting the  hands  of  family  members  studied. 

TABLE  3. — Length  in  millimeters  of  second  phalanx  of  index  finger  and  ring  finger 
of  family  members  studied,  measured  from  the  radiographs. 

LINE  1. 


Generation. 

Individual. 

Age. 

Length    of 
II  2  in  mm. 

Length    of 
IV  2  in  mm. 

Right. 

Left. 

Right. 

Left. 

Ill 

11.5d"C.A.B.H.. 

ca.80 

6 

6 

27 

27 

"i 

115.3d"P.F.G.H.  . 
115.4c?M.H  

42 
ca.26 
ca.23 
35 
33 

25 
5 
6 
24 
6 

25 
5 

8? 
24 
10 

29 
29 
27 
29 
29 

29 
28 
26 
29 
29 

HS.ecTC.S.H  
115.7?L.H  

115.8d"I.H  

v. 

1147.7d"G.B  

24 
41 
36 
12 
10 
7 
12 
10 
7 
4 

23 
21 
25 
21 
18 
18 
8 
17 
14 
13 

23 
20 
25 
21 
18 
18 
10 
17 
14 
13 

27 

(') 

30 
25 
20 
21 
23 
21 
17 
17 

27 
26 
29 
25 
20 
21 
23 
22 
17 
17 

1151.29S.G  

1151.3cfS.G  

1153.1c?P.F.H  
1153.29S.E.H  
1153.39E.RH  
1154.1  9  1.S.H  

1156.1c?C.R.H  
1157.1d*R.H.G.H.. 
1158.1d"D.L.H.... 

"1 

11474.1cfK.L.J  
11512.  IcfO.R  

7 
19 

7 

13 
9 

16 

14 
8 
16 

16 

28 
19 

16 

27 

18 

11531.1  9  E.G  

LINE  9. 


( 

194.2cfA.K.A.G.. 

57 

17 

17 

26 

26 

194.3c?E.A.L  

55 

22 

22 

30 

30 

IV) 

194.79S.A  

ca.47 

18 

18 

28 

28 

194.8d*H.0  

43 

22 

22 

27 

27 

V 

1942.1  9  J-G  

35 

8 

11 

25 

25 

1942.29G.E.G  

9 

18 

17 

22 

22 

1942.39A.E.G  

7 

15 

15 

19 

19 

1942.4cfE.L.H.G.. 

5 

17 

17 

19 

19 

1942.5o"A.M.G.... 

3 

8? 

9 

15 

15 

V 

1943.1d"E.A.L  

19 

22 

21 

29 

29 

1943.2c?H.J.L  

18 

25 

25 

29 

30 

1943.3c?H.R.L  

16. 

24 

25 

29 

30 

1943.49E.M.L  

15 

21 

20 

29 

29 

1943.59E.S.L  

11 

13 

13 

22 

23 

1947.1  9  E.Aa  

9 

15 

15 

21 

21 

VI 

19421.  cfR.J.H  

7 

18 

18 

21 

20 

1  Right  ring  finger  lost  by  an  accident. 

When  these  values  are  plotted  in  the  correlation  table  comprising 
Pfitzner's  material  a  very  illuminating  result  is  obtained. 


HEREDITARY   TYPE    OF   CHARACTER   STUDIED. 


53 


TABLE  4. — Correlation  table  for  SOI  normal  hands  of  adult  individuals  (Pfitzner)  and  for 
70  normal  and  brachyphalangous  hands  from  individuals  of  the  family  here  studied.  Length 
of  second  phalanx  of  the  index,  subject.  Length  of  second  phalanx  of  the  ring  finger,  rel- 
ative. Pfitzner's  measures  are  written  in  total  numbers  for  each  class;  measures  from 
normal  family  members  are  indicated  singly  by  /;  those  from  individuals  described  as 
brachyphalangous  by  \  . 


15 

16 

17 

18 

19 

20 

21 

22 

23 

24 

25 

26 

27 

28 

29 

30 

31 

32 

\ 

1 

III! 

1 

1 

1 

1 

1 

1 

\ 

1 

1 

1 

/ 

// 

II 

/ 

// 

// 

II 

/ 

-/ 

// 

/ 

// 

II 

/// 

/// 
3 

/ 

II 

/ 

2 

2 

2 

4 

1 
/ 

1 

5 

!8 

// 
IO 

1 
4 

II 

3 

20 

24 

II 
9 

/ 

1 
/ 

II 

1 

4 

21 

// 
30 

7 

/ 

6 

22 

30 

/// 
9 

3 

/ 

3 

9 

//// 
19 

/// 
6 

I 

3 

8 

/ 

/ 

2 

2 

/ 

10 


12 
13 
14 
15 
16 
17 
18 
19 
20 
.21 
22 
23 
24 
25 
26 
27 
28 
29 


Figures  at  tops  of  columns  represent  the  length  in  millimeters  of  second 
Figures  in  column  at  extreme  left  of  the  table  represent  the  length  in 

phalanx  of  index  finger. 


phalanx  of  ring  finger, 
millimeters  of  second 


54  A   NEW   TYPE   OF   BKACHYPHALANGY   IN   MAN. 

It  will  be  seen  from  table  4  that  22  of  the  measures  obtained  from 
the  radiographs  fall  within  the  classes  which  are  represented  in  Pfitz- 
ner's material.  21  measures  are  seen  to  be  grouped  in  the  correlation 
table  close  around  the  line  which  represents  the  axis  of  the  " swarm" 
formed  by  Pfitzner's  numbers.  These  are  all  from  hands  which  by  our 
examination  are  found  to  be  normal.  They  are  obtained  from  children's 
hands  and  this  is  the  reason  why  they  do  not  fall  within  Pfitzner's 
classes,  his  material  consisting  only  of  hands  from  adult  individuals. 

We  would  expect  from  Holmgren's  work  (1910)  that  the  checking 
of  growth  in  length  of  the  second  row  of  phalanges  should  start  some- 
what earlier  on  the  radial  side  and  proceed  gradually  to  the  ulnar 
side.  Thus  hands  of  brachyphalangous  children  may  appear  more 
nearly  normal  than  they  will  later.  This  may  disturb  the  comparative 
value  of  measurements  from  children's  hands,  but  the  difference 
would  not  be  significant. 

Twenty-nine  measures  fall  outside  the  limits  of  extreme  variation 
in  normal  hands,  as  clearly  demonstrated  in  the  correlation  table. 
These  measures  are  all  obtained  from  individuals  who  by  our  external 
examination  are  found  to  be  brachyphalangous.  Five  of  the  22 
measures  which  fall  within  Pfitzner's  classes  are  also  obtained  from 
individuals  above  described  as  brachyphalangous.  Two  of  these 
measurements  are  found  in  the  extreme  normal  classes  20  mm.  to  26 
mm.  and  21  mm.  to  26  mm.,  respectively.  They  represent  the  hands 
of  the  individual  1151.2  9S.G.  That  she  was  brachyphalangous  is 
proved  by  the  fact  that  she  had  a  brachyphalangous  son.  The  intro- 
duction of  the  length  of  the  index  phalanx  of  the  right  hand  in  the 
class  21  mm.  to  26  mm.  is  open  to  doubt.  The  individual  lost,  as 
already  stated,  her  right  ring  finger  by  an  accident,  so  that  the  length  of 
IV  2  is  unknown.  Judging  from  the  very  high  correlation  between  II  2 
and  IV  2  less  error  is  probably  involved  by  this  proceeding  than  by 
omitting  the  measure  of  her  right  index  phalanx  from  the  correlation 
table. 

The  two  measurements  in  class  22  mm.  to  27  mm.  represent  the 
phalanx  lengths  of  the  individual  194.8  d*  H.  0.  That  he  is  to  be 
regarded  as  brachyphalangous  is  indicated  by  the  aspect  of  the  volar 
side  of  his  indices  and  by  the  marked  shortening  of  phalanx  II  of  his 
right  foot,  shown  in  the  radiograph  (fig.  50) . 

The  measurement  in  the  extreme  normal  class  22  mm.  to  29  mm. 
represent  the  values  from  the  right  hand  of  1943. Icf  E.  A.  L.  The 
measurements  from  his  left  hand  fall  outside  the  limits  of  variation  in 
normal  hands  and  his  brachyphalangy  is  clearly  indicated  by  the  ex- 
ternal aspect  of  his  hands. 

When  these  five  measurements  are  added  to  the  29  which  fall  outside 
the  limits  of  variation  in  the  normal  hands  we  have  in  all  34  phalanx 
measurements  representing  brachyphalangous  individuals,  indicated 
in  the  table  by  vertical  marks. 


HEREDITARY   TYPE    OF   CHARACTER   STUDIED.  55 

When  the  distribution  of  these  measurements  is  studied  in  the  cor- 
relation table  it  will  be  seen  that  they  fall  into  two  different  groups. 
One  of  these  forms  a  group  near  and  parallel  to  the  "swarm "  of  normal 
measures  and  even  overlapping  it  to  some  degree,  as  just  mentioned. 
The  individuals  whose  phalanx  measurements  belong  to  this  group  are 
all  described  as  brachyphalangous  of  the  B-type.  The  other  group 
of  values  forms  a  " swarm"  of  its  own  in  the  upper  right  corner  of 
the  correlation  table,  removed  from  the  other  two  swarms.  The  individ- 
uals from  whom  these  phalanx  measurements  are  obtained  show  the 
B  !-type  of  brachyphalangy. 

It  will  be  seen  that  two  values  in  the  classes  8  mm.  to  23  mm.  and 
10  mm.  to  23  mm.  seem  to  form  a  connective  link  between  the  two  groups. 
But  this  is  merely  apparently  so.  In  fact  these  two  measurements 
are  obtained  from  the  individual  1154.1  9  I.  S.  H.  who  was  12  years 
old  when  the  radiographs  were  taken.  The  radiographs  demonstrate 
that  the  epiphysial  cartilages  of  her  second  index  phalanges  were 
already  entirely  ossified,  while  those  of  the  second  ring  finger  phalanges 
are  quite  normal.  This  means  that  the  growth  in  length  of  the  short- 
ened index  phalanges  has  stopped,  while  that  of  the  second  ring-finger 
phalanges  will  keep  on  for  several  years.  The  final  result  will  be  that 
the  values,  temporarily  found  in  the  classes  mentioned,  when  the 
individual  is  adult  will  be  found  within  the  "swarm"  in  the  upper 
right  corner.  It  has  been  shown  that  a  similar  bony  condition  of  the 
epiphysial  cartilages  is  not  found  in  the  radiographs  from  hands  of 
B-type  brachyphalangous  children.  When  this  fact  is  taken  into 
account  the  two  separate  groups  stand  clearly  out  without  any  con- 
necting intermediate  link. 

The  value  found  in  the  11  mm.  to  25  mm.  class  is  obtained  from  the 
individual  1942.1  9 .  The  value  representing  the  measurements  from 
her  other  hand  is  found  in  the  8  mm.  to  25  mm.  class.  The  latter 
value  as  well  as  the  whole  aspect  of  her  indices  makes  it  clear  that  she 
belongs  to  the  type  whose  measurements  are  grouped  in  the  upper  right 
corner  of  the  correlation  table. 

It  may  be  objected  to  this  distinction  between  the  two  types  that 
the  material  is  too  small.  The  difference  might  be  due  merely  to  an 
extreme  case  of  somatic  variation  of  the  inherited  character  and  the 
apparent  occurrence  of  two  types  might  be  explained  by  the  fact  that 
we  have  not  happened  to  meet  the  individuals  showing  an  intermediate 
condition.  Our  material,  however,  is  larger  than  the  radiographs 
alone  indicate.  If  we  take  the  photographs  and  the  cases  where  we 
have  reliable  information  of  B  !-type  brachyphalangy  into  account — 
"index  fingers  with  only  one  joint" — we  get  16  brachyphalangous 
individuals  of  the  B-type,  11  of  the  B  !-type.  It  seems  highly  improb- 
able that  within  this  number  of  individuals  representing  14  different 
families  we  should  not  have  met  a  single  intermediate  case,  if  we  are 
here  dealing  with  an  ordinary  somatic  fluctuation.  If  this  were  the  case 


56  A   NEW   TYPE   OF   BRACHYPHALANGY   IN   MAN. 

we  should  expect  the  majority  of  cases  to  be  of  an  intermediate  type 
between  the  extreme  ones  examined. 

A  possible  suggestion  that  the  different  occupations  of  the  individuals 
might  be  of  importance  for  the  development  of  one  or  the  other  type 
is  clearly  disproven  by  the  facts.  In  the  family  record  the  occupation 
of  the  brachyphalangous  individuals  is  given,  and  it  will  be  seen  there 
that  both  types  occur  within  the  most  different  occupations.  There 
is  no  support  for  the  belief  that  hard  physical  work  or  lack  of  physical 
work  might  favor  the  development  of  one  type  or  the  other. 

The  question  arises,  accordingly,  whether  or  not  this  occurrence  of 
two  types  can  be  explained  on  a  genetic  basis.  To  be  able  to  give  an 
answer  we  will  have  to  study  the  distribution  of  the  two  types  within 
the  part  of  the  family  where  our  information  is  extensive  enough  with 
regard  to  this  special  point.  This  is  the  case  within  line  1  for  the  four 
generations  including  ll.Sd71  C.  A.  B.  H.  and  his  descendants,  and 
within  line  9  for  most  families  descending  from  19.4  9  L.  E.  0. 

In  text-figures  3  and  4  the  pedigree  is  given  for  these  parts  of  the 
family.  A  glance  at  these  pedigrees  reveals  the  following  points : 

The  difference  in  types  bears  no  relation  to  sex;  neither  of  the  types 
is  sex-linked. 

A  B  !-type  brachyphalangous  individual  may  have  B-type  brachy- 
phalangous offspring  and  vice  versa.  A  good  illustration  of  this  fact 
is  found  in  line  1,  where  ll.Sd1  is  brachyphalangous  of  the  B  !-type, 
his  daughter  115.1  9  of  the  B-type,  her  daughter  1151.2  9  of  the 
B-type,  and  her  son  11512.1  cf  of  the  B  !-type. 

Striking,  also,  is  the  fact  that  the  B  !-type  prevails  in  line  1,  while 
the  B-type  prevails  in  line  9.  In  line  1  only  2  individuals  belong  to  the 
B-type  as  against  9  of  the  B  !-type.  In  the  part  of  line  9  here  studied 
we  know,  on  the  contrary,  10  B-type  brachyphalangous  individuals 
and  only  1  of  the  B  !-type. 

It  is  clear  from  these  pedigrees  that  we  are  not  dealing  with  two 
independent  genes,  one  causing  the  B-type  and  the  other  the  B  !-type. 
The  question,  then,  is  whether  the  presence  of  a  specific  modifying 
gene  may  account  for  the  appearance  of  the  two  different  types. 

One  of  the  most  remarkable  features  in  modern  genetic  work  is  the 
steadily  increasing  amount  of  information  concerning  the  very  frequent 
occurrence  of  specific  modifiers  which  influence  the  somatic  appear- 
ance of  other  Mendelian  characters.  As  Morgan  puts  it  (1918) : 

"Most  interesting  of  all  the  mutations  that  are  now  engaging  the  attention 
of  students  of  mutation  are  those  in  which  genetic  factors  or  genes  occur,  or 
appear,  whose  most  obvious  action  is  to  enhance  or  diminish  some  other,  more 
conspicuous  character.  These  genes  may  be  called  specific  modifiers.  They 
do  not  differ  from  ordinary  genetic  factors  in  any  essential  respect,  but  since 
their  presence  can  not  be  detected  except  when  other  factors  are  themselves 
producing  some  particular  effect  on  the  individual,  it  is  convenient  to  give 
them  a  special  designation." 


HEREDITARY  TYPE  OF  CHARACTER  STUDIED. 


57 


Our  knowledge  of  modifying  genes  in  a  more  general  sense  of  the 
word  may  be  said  to  date  back  to  Cue'not's  investigation  of  the  intensi- 
fying and  diluting  genes  influencing  the  effect  of  other  color  factors  in 
mice  (1907).  The  perception  of  their  widespread  occurrence  and  of 


cf  Q  tfd£  tf  9   9    9    9    f-f    tf  cT  cf 


QO  NORMAL  INDIVIDUALS 
CfQ   INSUFFICIENT  INFORMATION 
tfA  B!-TYPE   BRACHYPHALANGOUS  INDIVIDUALS 
^        O  CT®  B-TYPE  BRACHYPHALAN&OUS  INDIVIDUALS 

TEXT-FIGURE  3. — Pedigree  demonstrating  the  distribution  of  B-type  and  B  .'-type 
brachyphalangy  among  the  descendants  of  11.5cf  C.A.B.H.,  line  1. 


19.4 


FAMIUT 


NORMAL  INDIVIDUALS 

INSUFFICIENT    INFORMATION 

6-TYPE  BRACHYPMALANGOU5  INDIVIDUALS 

BI-TYPE  BRACHYPHALANGOUS  INDIVIDUALS 


TEXT-FIGURE  4. — Pedigree  demonstrating  the  distribution  of  B-type  and  B  !-type 
brachyphalangy  among  the  descendants  of  19.4  9  L.E.O.,  line  9. 

their  importance  grew  gradually  out  of  the  discussion  on  the  multiple- 
factor  view,  inaugurated  by  the  investigations  of  Nilson-Ehle  (1909) 
and  East  (1910, 1911).  East  gives  (1912)  a  very  clear  discussion  of  the 
"modifying  factors,"  and  in  recent  years  they  play  the  foremost  part 
in  all  publications  dealing  with  the  question  of  the  effect  of  selection. 


58        A  NEW  TYPE  OP  BRACK YPHALANGY  IN  MAN. 

The  clear  definition  of  the  ''specific  modifiers"  as  given  above — the 
term  was  first  used  by  Bridges  (1916) — was,  however,  first  given  after 
they  had  been  found  in  Drosophila,  where  their  conclusive  demon- 
stration is  possible  through  linkage  tests. 

In  Drosophila  these  genes  have  been  studied  by  Morgan,  Dexter, 
Bridges,  Sturtevant,  MacDowell,  Muller,  and  Altenburg,  and  the 
work  along  this  line  has  proved  beyond  doubt  that  they  are  extremely 
common  in  this  material.  Bridges  has,  for  instance,  isolated  not  less 
than  9  of  them,  which  all  modify  the  "eosin"  eye  color,  while  they  do 
not  affect  the  red  color  of  the  eye  of  the  wild  fly.  At  present  more 
than  25  specific  modifiers  are  known  in  Drosophila — according  to  Dr. 
Bridges' s  personal  information — and  whenever  a  character  shows 
marked  variability  it  seems  practically  only  a  question  of  time  before  it 
will  be  possible  to  isolate,  through  inbreeding,  a  modifier,  or  modifiers 
which  influence  the  character. 

In  a  general  way,  it  can  safely  be  stated  that  this  material  is  not  at 
all  exceptional  in  this  respect.  The  discussion  regarding  the  effect  of 
selection  and  the  large  amount  of  experimental  data  underlying  it 
furnish  conclusive  evidence  for  the  very  common  occurrence  of  genes 
of  this  kind  throughout  the  whole  animal  and  plant  kingdom.1  All 
individuals  are  probably  heterozygous  for  a  multitude  of  them,  and  it 
is  a  priori  unthinkable  that  man  here  should  represent  an  exception. 
Evidence  in  support  of  the  hypothesis  that  skin  color  in  man  depends 
on  multiple  genes  of  this  type  is  already  found  in  Davenport's  investi- 
gations on  crosses  between  races  with  different  color  (Davenport, 
G.  C.  and  C.  B.,  1910;  Davenport,  C.  B.,  1913). 

In  reviewing  the  literature  concerning  brachyphalangy  in  man 
(p.  13)  we  noticed  that  the  majority  of  cases  showed  a  very  striking 
variability  in  the  somatic  appearance  of  the  character.  Not  only  was 
the  degree  of  shortening  very  different  in  different  members  of  the 
same  family,  but  quite  different  phalanges  or  metacarpi  showed  the 
shortening  and  some  members  showed  a  combination  of  the  brachy- 
phalangy with  hyperphalangy  or  anchylosis,  others  not.  In  fact  the 
case  we  are  here  dealing  with  is  exceptional  in  respect  to  regularity  of 
the  inherited  character. 

The  striking  irregularities  in  most  of  the  other  reported  cases  can 
hardly  be  explained  without  the  assumption  that  the  normal  indi- 
viduals who  married  into  the  families  must  have  been  heterozygous  for 
different  modifying  genes.  This  would  not  be  surprising.  When, 
for  instance,  we  remember  that  within  comparatively  few  years  more 
than  50  Mendelian  genes  have  arisen  which  influence  the  eye  color 
in  Drosophila,  more  than  40  affecting  the  shape  or  length  of  the  wings, 
it  seems  very  likely  that  a  high  number  of  genes  must  be  involved  in 
the  formation  and  development  of  any  other  organ,  such  as  a  normal 

1  As  to  this  we  may  refer  to  the  discussions  by  East  (1912),    MacDowell  (1914,  1915,  1916), 
Morgan  (1918),  Sturtevant  (1918),  and  Bridges  (1916.). 


HEREDITARY  TYPE  OF  CHARACTER  STUDIED.  59 

human  hand.  When  we  further  take  into  account  the  extreme  varia- 
bility in  human  hands,  not  only  in  general,  but  also  within  a  strain 
where  a  characteristic  familiar  type  is  inherited  for  generations,  it  seems 
justifiable  to  suggest  that  the  different  individuals  also  carry  numerous 
modifying  genes  which  may  influence  the  appearance  of  other  charac- 
ters— for  instance,  the  malformation  we  are  here  dealing  with. 

Let  us  see  if  the  occurrence  of  two  types  in  our  case  may  be  explained 
on  the  hypothesis  that  some  of  the  normal  individuals  who  married  into 
the  family  have  been  heterozygous  for  a  specific  modifier,  enhancing 
the  effect  of  the  principal  gene. 

Suppose  this  modifying  gene  is  dominant:  The  principal  gene  "B" 
causes  a  shortening  of  the  second  phalanges  of  the  indices  (B-type 
brachyphalangy).  The  specific  modifier  "MB"  enhances  the  effect  of 
B,  altering  the  character  into  the  very  short  type  (B  !-type),  which  is 
thus  a  double  dominant  form. 

Applied  to  line  1  (text-figure  2)  the  B  !-type  brachyphalangous  11.5  d" 
must  have  been  of  the  constitution  B  MB.  Some  of  his  children  by 
his  second  marriage  with  a  normal  wife  will  receive  both  B  and  MB 
and  be  of  the  B  !-type  (115.4 cT,  115.6  cT,  115.8 cf);  some  will  receive 
only  B  and  be  B-type  brachyphalangous  (115.5cf);  and  some  will 
receive  only  MB  or  neither  B  nor  MB  and  in  both  cases  be  normal 
(115.3  cf  and  115.7  9 ).  The  children  of  the  first  marriage  of  11.5  d"  with 
his  cousin  17.1  9 ,  who  for  reasons  given  above  is  supposed  to  have  been 
heterozygous  for  the  principal  gene  B,  may  get  this  gene  from  one  or 
the  other  parent  and  be  B-type  brachyphalangous  (115.1  9)  or  from 
both  (115.2  9  ;  cf.  pp.  28-29).  They,  too,  may  or  may  not  get  the  modi- 
fier from  their  father,  involving  the  eventualities  just  mentioned.1 

In  two  cases  within  this  line  (115.5  cf  and  1151.2  9 )  B-type  brachy- 
phalangous individuals  have  a  B  !-type  brachyphalangous  child.  Here 
the  other,  the  normal  parent,  must  have  been  heterozygous  for  the 
modifier  MB  in  order  to  establish  the  BMB  combination  causing  the 
B  !-type  brachyphalangy. 

The  two  genes  B  and  MB  can  not  be  supposed  to  be  linked.  Not 
only  is  the  chromosome  number  in  man  so  high  that  such  a  linkage  is 
a  priori  extremely  improbable  according  to  chance,  but  the  striking 
contrast  in  the  distribution  of  the  two  types  within  the  two  lines  here 
recorded  is  decidedly  against  a  linkage  hypothesis. 

With  regard  to  line  9,  where  we  have  only  one  certain  case  of  B  !-type 
brachyphalangy  against  10  cases  of  the  B-type,  we  must  assume  that 
the  individual  19.4  9  has  received  only  the  principal  gene  B  and  not 
the  modifier  MB  from  her  father.  The  only  known  case  of  B  !-type 
brachyphalangy  within  this  line  (1942.1  9 )  results  from  the  first 
marriage  of  the  B-type  individual  194.2 cf.  It  is  interesting  to  notice 

1  The  semi-lethal  effect  in  one  of  these  children  (115.2  9 ).  interpreted  as  due  to  a  homozygous 
condition  of  the  principal  gene  for  brachyphalangy,  might  also  be  attributable  to  a  homozygous 
condition  of  the  modifying  factor  combined  with  the  heterozygous  condition  of  the  main  gene. 


60  A   NEW  TYPE    OF   BRACHYPHALANGY   IN   MAN. 

that  he  had  no  B  !-type  children  by  his  second  marriage.  This  is  well 
in  accord  with  our  hypothesis:  194.2 d"  himself  being  B-type  brachy- 
phalangous  is  heterozygous  for  B.  His  first  wife  was  heterozygous 
for  the  modifier  MB,  his  second  was  not. 

As  to  the  expected  numerical  ratio  between  B-type  (B)  and  B  !-type 
(BMB)  individuals,  the  numbers  are  evidently  far  too  small  to  be  of 
significance.  The  expectation  would  be  that  a  B  !-type  individual  in 
marriage  with  individuals  who  do  not  carry  the  modifier  should  have 
B  !-type  (BMB),  B-type  (B),  and  normal  children  in  the  ratio  1:1:2, 
half  of  the  latter  carrying  the  modifier  MBin  heterozygous  condition. 

But  as  the  hypothesis  demands  that  this  modifier  must  be  quite 
common,  that  is,  numerous  normal  people  must  be  heterozygous  for  MB, 
we  have  always  the  possibility  of  this  gene  being  introduced  by  both 
parents.  This  will  change  the  expected  ratio  to  3  BMB :  1 B :  4  normals, 
3  of  which  carry  the  modifier  in  homozygous  or  heterozygous  condition. 

On  the  assumption  that  we  are  dealing  with  a  dominant  modifier 
we  have  seen  that  two  normal  individuals  married  into  line  1  and  one 
married  into  line  9  must  have  been  heterozygous  for  this  gene.  We 
have  no  evidence  of  any  relationship  of  these  individuals  to  each  other 
or  to  the  members  of  the  family.  An  alternative  hypothesis  assuming 
the  presence  of  a  recessive  instead  of  a  dominant  specific  modifier 
would  demand  a  much  more  general  occurrence  of  the  modifying  gene 
among  normal  individuals,  since  the  family  has  not  remained  in  one 
locality  but  has  crossed  with  many  other  stocks. 

As  an  analogous  example  of  specific  modifiers  in  mammals  we  might 
mention  the  inheritance  of  the  mutant  character  rough  coat  in  guinea 
pigs.  Rough  is  dominant  over  smooth  in  a  typical  way,  but  in  crossing 
smooth  individuals  from  certain  (mostly  wild)  stocks  to  rough,  Castle 
(1905),  Detlefsen  (1914),  and  Wright  (1916)  obtained  so-called  "  par- 
tial-rough" individuals  among  the  offspring.  Wright  (1916)  showed 
that  the  "partial-roughs"  differ  from  ordinary  full  roughs  by  possessing 
an  independently  inherited  gene  (or  genes)  introduced  by  the  smooth 
individuals  from  the  special  stocks.  In  this  case  the  specific  modifier  is 
incompletely  dominant. 

In  finishing  the  discussion  of  the  two  types  it  many  be  mentioned 
that  the  investigation  of  line  9  alone  might  easily  have  led  to  the 
entirely  false  conclusion  that  the  character  showed  a  "weakening" 
through  the  later  generations — a  statement  often  met  with,  especially 
in  earlier  publications  concerning  heredity  in  man.  A  limited  examina- 
tion might  indeed  have  given  a  conception  of  a  very  marked  "weaken- 
ing" of  brachyphalangy  when  the  data  collected  from  now  living  mem- 
bers of  this  line  were  compared  with  the  description  of  the  character 
found  in  the  family  book  and  with  the  photograph  from  generation  II 
(fig.  3).  The  introduction  of  modifying  factors  in  later  generations 
(e.  g.,  as  that  found  in  this  case)  would  give  exactly  this  impression. 


HEREDITARY  TYPE  OF   CHARACTER  STUDIED.  61 

It  is  hardly  necessary  to  emphasize  further  the  hypothetical  character 
of  the  interpretation  here  given.  In  human  material  where  experiments 
are  excluded  the  only  way  is  to  test  whether  the  carefully  collected 
data  are  in  accordance  with  the  principles  sufficiently  well  established 
through  experimental  genetic  work.  This  is  what  has  been  done  here 
and  the  result  is  positive. 


VII.  SUMMARY. 

The  investigation  deals  with  a  symmetrical  shortening  of  the  second 
phalanx  of  the  second  fingers  and  toes  inherited  within  a  Norwegian 
family,  some  members  of  which  emigrated  to  North  America. 

The  malformation  is  always  restricted  to  this  phalanx  only,  a  rela- 
tion which  makes  the  character  especially  favorable  for  genetic  investi- 
gation, since  an  exact  numerical  expression  for  the  character  studied 
can  be  obtained  by  direct  measurements  from  the  radiographs. 

The  hands  and  feet  are  in  every  other  respect  perfectly  normal.  The 
affected  individuals  show  no  shortness  of  stature. 

The  anomaly  manifests  itself  under  two  distinctly  different  somatic 
types,  one  " slightly"  shortened,  so-called  B-type,  which  is  generally 
overlooked  by  the  affected  individuals,  and  one  very  "much"  shortened, 
so-called  B  !-type,  which  is  very  striking  in  its  somatic  appearance. 
No  case  of  an  intermediate  condition  has  been  observed. 

In  the  affected  phalanges  of  the  B-type  there  is  no  premature  ossi- 
fying of  the  epiphysial  cartilages.  Radiographs  from  hands  of  children 
having  the  B  !-type  brachyphalangy  demonstrate  at  the  age  of  12  years 
a  total  ossification  of  the  epiphysial  cartilage  of  the  affected  phalanx. 

The  inheritance  of  the  malformation  is  followed  without  any  break 
through  6  generations,  including  and  descending  from  an  individual 
born  in  1764.  The  lines  descending  from  one  affected  daughter  and 
one  affected  son  of  this  individual  form  the  main  subject  for  the  present 
investigation.  Within  these  lines  every  individual  is  recorded.  In 
addition,  several  families  belonging  to  the  IV,  V,  and  VI  generation, 
descending  from  another  affected  son,  are  discussed. 

A  detailed  family  record  is  presented  with  exact  information  also 
concerning  the  earlier  generations.  This  was  possible,  because  the 
family  owns  an  old  "Family  book"  with  elaborate  information  con- 
cerning each  individual  belonging  to  the  earlier  generations. 

The  photographs  of  brachyphalangy  cover  5  generations,  the  radio- 
graphs cover  4. 

The  brachyphalangy  is  inherited  as  a  dominant,  not  a  sex-linked 
character.  The  numerical  ratio  between  the  affected  and  unaffected 
individuals  in  the  offspring  of  brachyphalangous  members  of  the 
family  is  in  accordance  with  the  theoretical  expectation. 


62  SUMMARY. 

All  the  brachyphalangous  individuals  are  heterozygous  for  the  gene 
in  question,  with  one  possible  exception.  This  individual  resulted 
from  an  intermarriage  within  affected  lines,  and  therefore  may  have 
been  homozygous  for  the  factor  for  brachyphalangy.  She  was  a  cripple 
without  fingers  and  toes  and  was  unable  to  develop.  She  died  at  the 
age  of  one  year. 

Analogous  cases  from  experimental  genetic  work,  demonstrating  a 
distinct  difference  in  the  appearance  of  the  somatic  character  when 
the  genes  are  homozygous  from  that  of  the  heterozygous  condition, 
and  the  lethal  effect  of  many  dominant  genes  when  homozygous  are 
discussed  in  this  connection.  Emphasis  is  laid  on  the  importance  of 
this  experience  from  a  medical  point  of  view. 

The  material  includes  one  case  of  identical  twins,  both  brachypha- 
langous of  an  identical  type. 

Based  on  the  numerous  measurements  from  the  radiographs,  an 
analysis  of  the  two  types  of  the  malformation  was  possible.  Much 
attention  has  been  paid  to  this  special  point.  It  was  found  that  the 
B-type  of  brachyphalangy  may  overlap  the  limit  of  extreme  variation 
in  normal  hands — i.  e.,  some  individuals  heterozygous  for  the  gene  for 
brachyphalangy  (which  generally  causes  a  very  characteristic  altera- 
tion of  the  hand)  may  be  somatically  normal.  The  conclusive  demon- 
stration of  this  fact  was  obtained  in  one  case  where  the  radiographs 
gave  normal  measures  while  the  genetic  test,  which  was  at  the  same 
time  at  hand,  proved  the  individual  to  be  heterozygous  for  the  gene 
for  brachyphalangy. 

A  genetic  explanation  of  the  occurrence  of  the  B-type  and  B  !-type 
is  suggested.  Based  on  analogies  from  experimental  genetic  work,  the 
two  types  are  explained  through  the  presence  in  some  of  the  normal 
individuals,  married  into  the  family,  of  a  dominant  specific  modifying 
gene  which  enhances  the  effect  of  the  principal  gene  for  brachyphalangy 
and  changes  the  B-type  into  a  B  !-type. 

Indications  in  favor  of  this  view  are  presented  from  the  earlier 
literature  concerning  hereditary  brachyphalangy  in  man  which  deals 
with  types  of  brachyphalangy  different  from  the  one  here  studied. 
The  review  of  this  literature  includes  both  "pre-Mendelian"  and 
"post-Mendelian"  publications  demonstrating  inheritance  of  these 
malformations  in  accord  with  Mendel's  laws. 


LIST  OF  LITERATURE. 

BAUR,  E.     1914.     Einfiihrung  in  die  experimentelle  Vererbungslehre.  2  Aufl.,  Berlin,  1914; 

pp.  1-401. 
BRIDGES,  C.  B.     1916.     Non-disjunction  as  a  proof  of  the  chromosome  theory  of  heredity. 

Genetics,  vol.  1,  pp.  1-52,  107-163. 
CASTLE,  W.  E.     1905.    Characters  in  guinea-pigs  and  rabbits.    Carnegie  Inst.  Wash. 

Pub.  No.  23,  pp.  1-78. 
—  and  C.  C.  LITTLE.     1910.     On  a  modified  Mendelian  ratio  among  yellow  mice. 

Science,  n.  s.,  vol.  xxxii,  pp.  868-870. 
— ,  and  S.  WRIGHT.     1916.     Studies  of  inheritance  in  guinea-pigs  and  rats.    Carnegie 

Inst.  Wash.  Pub.  No.  241,  pp.  1-196. 
CLARKE,  D.  S.     1915.    Congenital  hereditary  absence  of  some  of  the  digital  phalanges. 

Brit.  Med.  Jour.,  vol.  n  for  1915,  p.  255. 
CRAGG,  E.,  and  H.  DRINKWATER.    1916.    Hereditary  absence  of  phalanges  through  five 

generations.    Jour,  of  Gen.,  vol.  6,  pp.  81-89. 
COLSON,  — .    1882.    Microdactylie.    Ann.  de  la  Soc.  de  Med.  de  Gand.,  p.  202.    Ref.  by 

Leboucq,  1896. 
CUENOT,  L.     1905.     Les  races  pures  et  leurs  combinaisons  chez  les  souris   (4me  note). 

Arch,  de  Zool.  exp.  et  ge"n.,  4e  s6r.,  t.  m,  notes  et  revue,  pp.  cxxiii-cxxxii. 
.     1907.     L'he're'dite'  de  la  pigmentation    chez  les  souris   (5me  note),   Arch,  de 

Zool.  exp.  et  ge"n.,  4e  s4r.,  t.  vi,  notes  et  revue,  pp.  i-xiii. 
— .     1908.     Sur  quelques  anomalies  apparentes  des  proportions  mendeliennes,    (6e 

note).     Arch,  de  Zool.  exp.  et  ge*n.,  4  se"r.,  t.  ix,  notes  et  revue,  pp.  vii-xv. 
DAVENPORT,  G.  C.,  and  C.  B.  DAVENPORT.    1910.    Heredity  of  skin  pigment  in  man. 

Amer.  Nat.,  vol.  XLIV,  pp.  641-728. 
DAVENPORT,  C.  B.     1913.     Heredity  of  skin  color  in  negro-white  crosses.     Carnegie  Inst. 

Wash.  Pub.  No.  188,  pp.  1-106. 
DETLEFSEN,  J.  A.    1914.    Genetic  studies  on  a  cavy  species  cross.    Carnegie  Inst.  Wash. 

Pub.  No.  205,  pp.  1-134. 
DRINKWATER,  H.     1908.     An  account  of  a  brachydactylous  family.     Proc.  Roy.  Soc.  of 

Edinburgh,  vol.  xxvin,  part  1,  pp.  35-57. 
— .     1912-1913.     Account  of  a  family  showing  minor-brachydactyly.     Jour,  of  Gen., 

vol.  n,  pp.  21-40. 

— .     1913-1914.     Minor-brachydactyly  No.  2.     Jour,  of  Gen.,  vol.  in,  pp.  217-220. 
— .     1914-1915.    A  second  brachydactylous  family .     Jour,  of  Gen.,  vol.  iv,  pp.  223-340. 
EAST,  E.  M.     1910.    A  Mendelian  interpretation  of  variation  that  is  apparently  continuous. 

Amer.  Nat.,  vol.  XLIV,  pp.  173-181. 
.     1911.    The  genotype  hypothesis  and  hybridization.    Amer.  Nat.,  vol.  XLV, 

pp.  160-174. 
.    1912.    The  Mendelian  notation  as  a  description  of  physiological  facts.    Amer. 

Nat.,  vol.  XLVI,  pp.  633-655. 
FARABEE,  W.  C.     1905.     Inheritance  of  digital  malformations  in  man.     Papers  of  the 

Peabody  Mus.  Harvard  Univ.,  vol.  in,  pp.  65-78. 
FONTANA  and  VACCHELLI.     1902.     Uber  vier  Falle  von  angeborener  Deformitat  der  Hand. 

Archivio  di  Orthopedia,  1902,  p.  119.     Ref.  in  Arch.  f.  Orthop.  1903.     Bd.  1. 
FtiRST,  C.  M.     1900.     Ein  Fall  von  verkiirzten  und  zweigliedrigen  Fingern.     Zeitschr.  f. 

Morph.  u.  Anthrop.  Bd.  2,  pp.  56-76. 
GOLDMANN,  E.  E.     1891.     Beitrag  zur  Lehre  von  den  Missbildungen  der  Extremitaten. 

Beitr.  z.  klin.  Chir.  Bd.  7,  pp.  209-256. 
GUBLER,  M.     1850.     Vice  de  conformation  des  mains.     Gaz.  med.   de  Paris,   t.  5,   pp. 

648-649. 
GRTJBER,  W.    1865.    Beobachtung  des  Defectes  der  Mittelphalangen  an  alien  Fingern  und 

Zehen  am  Lebenden  beobachtet.     Oester.  Zeitschr.  f.  prakt.  Heilk.  xi,  Jahrg., 

pp.  981-985. 
HOCHHEIM,  K.     1903-1904.     Ein  Fall  von  Brachydaktylie  an  alien  Extremitaten.   Fortschr. 

a.  d.  Geb.  d.  Rontgenstr.,  Bd.  7,  pp.  273-276. 
HOLMGREN,  T.     1910.     Uber  den  Einfluss  der  Basedow'schen  Krankheit  und  verwandter 

Zustande  auf  das  Langenwachstum  nebst  einigen  Gesetzen  der  Ossification.    Kap. 

vni,  Uber  die  Ossification  der  Hand  und  die  friihzeitigere  Verknocherung  der 

grosswtichsigen  Individuen.     Nord.  med.  Arch.  Afd.  n,  Bd.  43,  pp.  119-185. 

63 


64  LIST   OF   LITERATURE. 

JOACHIMSTHAL,   G.     1900.     Die    angeborenen    Verbildungen    der    oberen    Extremitaten. 

Fortschr.  a.  d.  Geb.  d.  Rontgenstr.,  Erganzheft.  2,  pp.  1-40. 
KENYERES,  B.     1905-1906.     Angeborene  Missbildungen  und  erworbene  Deformitaten  in 

Rontgenbildern.     Fortschr.  a.  d.  Geb.  d.  Rontgenstr.,  Bd.  9,  pp.  351-355. 
KUMMEL,  W.     1895.     Die  Missbildungen  der  Extremitaten  durch  Defect,  Verwachsung 

und  Uberzahl.     Bibliotheca  Medica,  Abt.  E,  Heft  3,  pp.  1-84. 
LEBOUCQ,  M.     1896.     De  la  brachydactylie  et  de  1'hyperphalangie  chez  1'homme.     Bull. 

Acad.  Roy.  de  Med.  de  Belgique,  IVe  serie,  t.  x,  pp.  544-561. 
LXJNDBORG,  H.     1913.     MedizinischbiologischeFamilienforschungeninnerhalb  eines2232 — 

kopfigen  Bauerngeschlechtes  in  Schweden.     Jena  1913.     Pp.  1-740. 
MAcDowELL,  E.  C.     1914.     Size  inheritance  in  rabbits.     Carnegie  Inst.  Wash.  Pub.  No. 

196,  pp.  1-55. 
.     1915.     Bristle  inheritance  in  Drosophila,  I:  Extra  bristles.     Jour.  Exp.   Zool., 

vol.  19,  pp.  61-98. 

.     1916.     Piebald  rats  and  multiple  factors.     Amer.  Nat.,  vol.  L,  pp.  719-742. 

MACHOL,  A.     1907.     Beitrage  zur  Kenntniss  der  Brachydactylie.     Mitteil.  a.  d.  Grenzgeb. 

d.  Med.  u.  Chir.  Gedenkband  f.  J.  v.  Mikulicz.,  pp.  712-766. 
MAcKiNDER,  D.     1857.     Deficiency  of  fingers  transmitted  through  six  generations.     Brit. 

Med.  Jour.  (Oct. ),  pp.  845-846. 

MALL,  F.  P.     1906.     Ossification  centers  in  human  embryos  less  than  one  hundred  days 

old.    Amer.  Jour.  Anat.,  vol.  v,  pp.  433-458. 
MORGAN,  T.  H.,  A.  H.  STURTEVANT,  H.  J.  MULLER,  and  C.  B.  BRIDGES.     1915.    The 

mechanism  of  Mendelian  heredity.     New  York  and  London,  pp.  1-262. 
MORGAN,  T.  H.     1916.     A  critique  of  the  theory  of  evolution.     Princeton  Univ.  Press, 

pp.  1-197. 

.     1917.    The  theory  of  the  gene.    Amer.  Nat.,  vol.  LI,  pp.  513-544. 

MULLER,  H.  J.     1917.     An  Oenothera-like  case  in  Drosophila.     Proc.  Nat.  Acad.  Sci., 

vol.  3,  pp.  619-626. 
NILSSON-EHLE,   H.     1909.     Kreuzungsuntersuchungen   an   Hafer   und   Weizen.     Lunds 

Univ.  Aarsskrift,  Afd.  2,  Bd.  5,  pp.  1-122. 
PFITZNER,  W.     1892  and  1893.     Beitrage  zur  Kenntniss  des  menschlichen  Extremitaten- 

skelets.     Schwalbe's  Morph.  Arb.  Bd.  i,  pp.  1-120;  Bd.  n,  pp.  93-205. 
.     1900.     Beitrage    zur    Kenntniss    des    menschlichen    Extremitatenskelets    vm. 

Zeitschr.  f.  Morph.  u.  Anthrop.  Bd.  2,  pp.  77-157  and  pp.  365-678. 
RABAUD,  E.     1912.     Le  mendelisme  chez  1'homme.     L' Anthrop.,  t.  23,  pp.  169-196. 
RIEDL,  H.     1907-1908.     Zur  Kasuistik  der  Brachydaktylie.     Fortschr.   a.   d.   Geb.  d. 

Rontgenstr.,  Bd.  11,  pp.  447-449. 
RITZMAN,  E.  G.     1916.     Mendelism  of  short  ears  in  sheep.     Jour.  Agric.  Res.,  vol.  vi, 

2  pp.,  797-798. 
ROUGHTON,  E.  W.    1897.    A  case  of  congenital  shortness  of  metacarpal  and  metatarsal 

bones.    The  Lancet,  vol.  n,  p.  19. 

SMITH,  H.  M.    1904.    Congenital  digital  malformation  in  negroes.    Amer.  Anthropolo- 
gist, vol.  6. 
STERNBERG,  J.     1902.    Zur  Kenntniss  der  Brachydaktylie.     Wien.  klin.  Wochenschr., 

Bd.  15,  pp.  1060-1065. 
STURTEVANT,  A.  H.    1918.    An  analysis  of  the  effects  of  selection.    Carnegie  Inst.  Wash. 

Pub.  No.  264,  pp.  1-67. 
VIDAL,  E.     1910.     Brachydactylie  symme'trique,  et  autres  anomalies  osseuses,  he're'ditaires 

depuis  plusieurs  generations.     Bull.  Acad.  de  M6d.,  Ref.  by  Rabaud  (112). 
WAGNER,  H.     1903-1904.     Ein  Beitrag  zur  Kenntniss  der  Brachydactylie.     Fortschr.  a. 

d.  Geb.  d.  Rontgenstr.,  Bd.  7,  pp.  94-98. 
WALKER,  G.     1901.     Remarkable  cases  of  hereditary  anchyloses  or  absence  of  various 

phalangeal  joints  with  defect  of  the  little  and  ring  finger.     Johns  Hopkins  Hosp 

Bull.,  12,  pp.  129-133. 
WRIEDT,  CHR.     1914.     Die  kurzohrige  Schafrasse  Norwegens.     Jahrb.  f.  wissenschaft.  u. 

prakt.  Tierzucht.,  9  Jahrg. 
.     1916.     De  kortorete  sauer  og  deres  forhold  til  Mendels  spaltningslov.     Tidsskr. 

f.  d.  Norske  Landbr.,  23  AArg.,  p.  622. 
.    1919.    Uber  die  Vererbung  von  Ohrenlange  beim  Schafe.    Zeitschr.  f.  ind.  Abst. 

u.  Vererb.  lehre.    Bd.  xx,  pp.  262-263. 


PLATE  1 


FIG.  1.— 115.3  <?  P.  F.  (5.  II. 


FIG.  2.— 115.7  9  L.  H. 


FIG.  3. — cT  0.  II  Generation. 


FIG.  4.— 11.5  <?  C.  A.  B.  H. 


FIG.  6.— 115.1  9  E.  A.  H. 


FIG.  7.— 115.4  d"  M.  H. 


FIG.  8.— 115.5  d"  H.  M.  H. 


PLATE  2 


Fio.  «».  -115.5  .7  H.  M.  H. 


Fu;.  11.— 115.8  c7  I.  H. 


FIG.  10.— 115.6  c7  C.  S.  H. 


FIG.  12.— 115.8  c7  I.  H. 


FIG.  13.— 1151.2  9  S.  G. 


FIG.  14.— 1151.2  9  S.  G. 


FIG.  15.— 1154.1   9  L  S.  H. 


FIG.  16.— 1155.2a  9  R.  S.  H. 


PLATE   3 


FIG.  17.— 1155.26   9   I.  .1.  H.,  ri?ht  h-m-l; 
ll.-)-).2a  9  R.  S.  H.,  loft  h-ind. 


FIG.  18.— 11512.1  <?  O.  R. 


FIG.  19.— 194.2  c?  A.  K.  A.  G. 


FIG.  20.— 194.2  d"  A.  K.  A.  G. 


FIG.  21.— 194.3  <?  E.  A.  L. 


FIG.  22.— 194.3  cf  E.  A.  L. 


FIG.  23.— 194.8  c?  H.  0. 


PLATE  4 


Fi<;.  2f>.— 1H4.7   9  S.  Aa. 


FIG.  26.— 194.7  9  S.  Aa, 


FIG.  27.— 1942.1   9  J.  G. 


FIG.  28.— 1942.5  c?  A.  M.  G 


FIG.  28.— 1943.1  <?  E.  A.  L. 


FIG.  30.— 1943.1  tf  E.  A.  L 


FIG.  31.— 1943.4  9  E.  M.  L. 


FIG.  32.— 1943.4  9  E.  M.  L 


PLATE  5 


IMC.  :«.  — l«)4:j.r>  9  E.  S.  L. 


FIG.  34.— 1943.5  9  E.  S.  L. 


FlO.  35.— 1947.1   9  E 


FIG.  36.— 1947.1  9  E.  Aa. 


FIG.  37.— 115.7   9  L.  H. 


FIG.  38.— 19421.3  tf  R.  F.  H. 


FIG.  39.— 11.5  cT  C.  A.  B.  H. 


FIG.  40.— 115.4  tf  M.  H. 


FIG.  41.— 115.6  rf1  C.  S.  H. 


FIG.  42.— 115.8  rf1  T.  H. 


FIG.  43.— 1151.2  9  S.  G. 


FIG.  44.— 1154.1  9  I.  S.  H. 


Fus.  45.— 11512.1  cT  O.  R. 


FIG.  46.— 194.2  rf1  A.  K.  A.  G. 


FIG.  47.— 194.3  d"  E.  A.  L. 


FIG.  48.— 194.7  9  S.  A. 


PLATE 


Fn;.  49.— 194.8  tf  H.  0. 


FIG.  50.— 194.8  cf  H.  0. 


iHl/y^g 


FIG.  51.— 91942.1  J.  G. 


FIG.  52.— 1942.5  d"  A.  M.  G. 


FIG.  c3.— 1943.1  d*  E.  A.  L. 


FIG.  54.— 1943.4  9  E.  M.  L. 


FIG.  55.— 1943.5  9  E.  S.  L. 


FIG.  56.— 1947.1   9  E.  Aa. 


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